Genetics Medicine

The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.

The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.

Specific research lines and teams include:

Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
Genetic and functional evaluation of CFTR pathogenic variants in cystic fibrosis patients treated with modulators.
Genetic bases of mental retardation, CNS malformations and autism spectrum disorders.
Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subjected to imprinting.
Genetic bases of aortic pathology, RASopathies, 22q11.2 deletions and duplications, tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, cleft lip and palate.
Better phenotype delineations and genomic approach of rare and ultra-rare genetic syndromes including fetal pathology and malformations.
Development and validation of new tools and strategies for genetic diagnosis.

Team

Campos Estela, Berta

Research assistant
Genetics Medicine
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Eduardo Fidel Tizzano

Head of group
Genetics Medicine
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Eulàlia Rovira Moreno

Predoctoral researcher
Genetics Medicine
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Fuentes Prior, Pablo

Predoctoral researcher
Genetics Medicine
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Joanna Domenech Vivo

Research technician
Genetics Medicine
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Lasa Aranzasti, Amaia

Research technician
Genetics Medicine
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Campos Estela, Berta

Research assistant
Genetics Medicine
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Eduardo Fidel Tizzano

Head of group
Genetics Medicine
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Eulàlia Rovira Moreno

Predoctoral researcher
Genetics Medicine
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Fuentes Prior, Pablo

Predoctoral researcher
Genetics Medicine
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Joanna Domenech Vivo

Research technician
Genetics Medicine
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Lasa Aranzasti, Amaia

Research technician
Genetics Medicine
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Research lines

Fetal Alcohol Syndrome

IP: -

Genetic bases of heart diseases

IP: -

Genetic bases of the congenital adrenal hyperplasia

IP: -

Genetic basis of mental retardation, malformations and autism spectrum disorders (ASD)

IP: -

Projects

Trio Study in Fetuses with Central Nervous System Malformations (CNS-TRIO Project)

IP: Nerea Maiz Elizaran
Collaborators: Josefa Élida Vázquez Méndez, Marta Codina Solà, Ma Irene Valenzuela Palafoll, Silvia Arévalo Martínez, Carlota Rodó Rodríguez, Eulàlia Rovira Moreno, David Gómez Andrés, Amaia Lasa Aranzasti, Elena Moreno Perez
Funding agency: Fundació La Marató de TV3
Funding: 197000
Reference: 202420-10
Duration: 20/02/2025 - 19/02/2028

PReDICT: Pediatric Stroke Rare Disorders: Integrative Diagnosis and Treatment using Multi-Omics and Deep Learning

IP: Belen Perez Dueñas
Collaborators: Marta Codina Solà, Maria Mar Hernandez Guillamon, Anna Rosell Novel, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 185165.07
Reference: PMPER24/00021
Duration: 01/01/2025 - 31/12/2026

Pilot project for the implementation of a screening tool to improve the prevention, diagnosis, and treatment of patients with a neurodevelopmental psychiatric disorder: Using the 22q11.2 deletion syndrome (22q11.2DS) as a model

IP: Alberto Plaja Rustein
Collaborators: Anna Maria Cueto Gonzalez
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: PMP22/00088
Duration: 01/01/2023 - 31/12/2025

Identification and functional characterization of structural variants in patients with inborn errors of immunity

IP: Roger Colobran Oriol
Collaborators: Romina Dieli Crimi, Aina Aguiló Cucurull, Laura Batlle Masó, Andrea Martín Nalda, Neus Castells Sarret
Funding agency: Instituto de Salud Carlos III
Funding: 208750
Reference: PI23/00161
Duration: 01/01/2024 - 31/12/2026

Publications

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

PMID: 40156476
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2025
Reference: Am J Med Genet A. 2025 Mar 29:e64048. doi: 10.1002/ajmg.a.64048.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Paula Fernandez; Douiev, Liza; Frank, Marika; Hanington, Lucy; Harel, Tamar; Hoffman, Trevor L; Irons, Mira B; Kim, Jenny; Kumar, Akash; Lasa-Aranzasti, Amaia et al.
DOI: 10.1002/ajmg.a.64048

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

PMID: 39815072
Journal: PRENATAL DIAGNOSIS
Year: 2025
Reference: Prenat Diagn. 2025 Jan 15. doi: 10.1002/pd.6746.
Impact factor:
Publication type: Paper in international publication
Authors: Benavent-Bofill, Clara; Blanco, Ignacio; Castells-Sarret, Neus; Cisneros, Adela; Foj, Laura; Lopez-Ortega, Ricard; Mademont-Soler, Irene; Obon, Maria; Plaja, Alberto; Rey, Natalia et al.
DOI: 10.1002/pd.6746

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

PMID: 39833101
Journal: CLINICAL GENETICS
Year: 2025
Reference: Clin Genet. 2025 Jan 20. doi: 10.1111/cge.14701.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Ballesta-Martinez, Maria Juliana; Brea-Fernandez, Alejandro J; Casas-Alba, Didac; Codina-Sola, Marta; Costa-Roger, Mar; Cueto-Gonzalez, Anna; Cusco, Ivon; Del Campo, Miguel; Fernandez-Alvarez, Paula et al.
DOI: 10.1111/cge.14701

Left ventricular ejection fraction decline and cardiovascular events in suspected cardiomyopathy with excessive trabeculation: toward precision medicine.

PMID: 39920987
Journal:
Year: 2025
Reference: Rev Esp Cardiol (Engl Ed). 2025 Feb 5:S1885-5857(25)00044-1. doi: 10.1016/j.rec.2025.01.011.
Impact factor:
Publication type: Paper in international publication
Authors: Alcala-Lopez, Juan E; Badia-Molins, Clara; Barrabes, Jose A; Barriales-Villa, Roberto; Bayes-Genis, Antoni; Casas, Guillem; Fernandez-Alvarez, Paula; Ferreira-Gonzalez, Ignacio; Garcia-Pavia, Pablo; Gimeno-Blanes, Juan Ramon et al.
DOI: 10.1016/j.rec.2025.01.011

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

PMID: 38505260
Journal: Frontiers in Cell and Developmental Biology
Year: 2024
Reference: Front Cell Dev Biol. 2024 Mar 5;12:1321282. doi: 10.3389/fcell.2024.1321282. eCollection 2024.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Xenia; Alonso-Colmenero, Itziar; Bayes, Alex; Camacho, Ana; Camino Leon, Rafael; Campistol Plana, Jaume; Cazorla, Maria Rosario; Cueto-Gonzalez, Anna Ma; Del Castillo-Berges, Diego; Fernandez-Jaen, Alberto et al.
DOI: 10.3389/fcell.2024.1321282

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

PMID: 38678163
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2024
Reference: Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1.
Impact factor:
Publication type: Paper in international publication
Authors: Angireddy, Rajesh; Au, Billie; Averdunk, Luisa; Balci, Tugce; Barwick, Katy; Baskin, Stephanie; Battault, Clarisse; Baxova, Alica; Bendova, Sarka; Bhoj, Elizabeth J K et al.
DOI: 10.1038/s41431-024-01610-1

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

PMID: 38694681
Journal:
Year: 2024
Reference: Cureus. 2024 Apr 1;16(4):e57378. doi: 10.7759/cureus.57378. eCollection 2024 Apr.
Impact factor:
Publication type: Paper in international publication
Authors: Arnedo, Maria; Ayerza-Casas, Ariadna; Gil-Salvador, Marta; Kaiser, Frank J; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Parenti, Ilaria; Pie, Juan; Puisac, Beatriz; Ramos, Feliciano J et al.
DOI: 10.7759/cureus.57378

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.

PMID: 38773883
Journal: CLINICAL GENETICS
Year: 2024
Reference: Clin Genet. 2024 May 21. doi: 10.1111/cge.14545.
Impact factor:
Publication type: Paper in international publication
Authors: Abouyousef, Omar; Al Abdi, Lama; Aldowaish, Abdullah; Alkuraya, Fowzan S; Campeau, Philippe M; Codina-Sola, Marta; Cueto-Gonzalez, Anna M; Mehrjoo, Yosra; Wurtele, Hugo et al.
DOI: 10.1111/cge.14545

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

PMID: 36271811
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2023
Reference: Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22.
Impact factor:
Publication type: Paper in international publication
Authors: Abu-Libde, Bassam; Bessenyei, Beata; Chhouk, Brian H; Csaszar, Andrea; Cueto-Gonzalez, Anna Maria; de Brouwer, Arjan P M; Elting, Mariet W; Gabau Vila, Elisabeth; Guitart, Miriam; Hickey, Scott et al.
DOI: 10.1002/ajmg.a.63004

ZDHHC15 as a candidate gene for autism spectrum disorder.

PMID: 36565021
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2023
Reference: Am J Med Genet A. 2023 Apr;191(4):941-947. doi: 10.1002/ajmg.a.63099. Epub 2022 Dec 23.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Sara; Brunet, Joan; Camos, Maria; Casellas-Vidal, Dolors; Castells, Neus; Del Mar Garcia, Maria; Mademont-Soler, Irene; Nieto-Moragas, Javier; Obon, Maria; Perapoch, Josep et al.
DOI: 10.1002/ajmg.a.63099

Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.

PMID: 36560896
Journal: PROTEIN SCIENCE
Year: 2023
Reference: Protein Sci. 2023 Apr;32(4):e4553. doi: 10.1002/pro.4553.
Impact factor:
Publication type: Paper in international publication
Authors: Anton, Rosa; Dorca-Arevalo, Jonatan; Estebanez-Perpina, Eva; Fuentes-Prior, Pablo; Nadal, Marta; Tizzano, Eduardo F et al.
DOI: 10.1002/pro.4553

Chronic progressive external ophthalmoplegia plus syndrome due to Homozygous Missense Variant in TOP3A gene.

PMID: 36544354
Journal: CLINICAL GENETICS
Year: 2023
Reference: Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Lopez-Diego, Veronica; Martinez-Saez, Elena; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/cge.14287

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

PMID: 36434327
Journal: INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
Year: 2022
Reference: Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19.
Impact factor:
Publication type: Paper in international publication
Authors: Arnedo, Maria; Ascaso, Angela; Ayerza-Casas, Ariadna; Bueno-Lozano, Gloria; Garcia, Gonzalo Gonzalez; Gil-Salvador, Marta; Kaiser, Frank J; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Pie, Juan et al.
DOI: 10.1007/s10554-022-02612-0

Anastomosis near to the ileocecal valve in neonates with focal intestinal perforation, is it safe.

PMID: 34096446
Journal: Journal of Maternal-Fetal & Neonatal Medicine
Year: 2022
Reference: J Matern Fetal Neonatal Med. 2022 Dec;35(25):7011-7014. doi: 10.1080/14767058.2021.1934444. Epub 2021 Jun 6.
Impact factor:
Publication type: Paper in international publication
Authors: Guillen, Gabriela; Lopez, Manuel; Lopez, Manuel; Lopez-Fernandez, Sergio; Martin Gimenez, Marta; Martos Rodriguez, Marta; Molino, Jose Andres; Ribes, Carmen; Ruiz, Cesar W et al.
DOI: 10.1080/14767058.2021.1934444

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.

PMID: 36202811
Journal: Nature Communications
Year: 2022
Reference: Nat Commun. 2022 Oct 6;13(1):5902. doi: 10.1038/s41467-022-33530-3.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Becker, Philipp; Brun-Heath, Isabelle; Canevazzi, Davide; Dabad, Marc; Frias-Lopez, Cristina; Garcia-Arumi, Elena; Gut, Ivo Glynne; Gut, Marta; Heath, Simon Charles et al.
DOI: 10.1038/s41467-022-33530-3

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

PMID: 36214804
Journal: GENETICS IN MEDICINE
Year: 2022
Reference: Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11.
Impact factor:
Publication type: Paper in international publication
Authors: Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C; Charles, Perrine; Chatron, Nicolas; Cohen, Lior et al.
DOI: 10.1016/j.gim.2022.08.020

Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.

PMID: 35698963
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Jul;57(7):501-503. doi: 10.1016/j.arbr.2020.11.017.
Impact factor:
Publication type: Letter whit IF
Authors: Álvarez, Antonio; Clofent, David; Culebras, Mario; de Gracia, Javier; Fernández-Alvarez, Paula; García Arumí, Elena; Gartner, Silvia; Loor, Karina; Loor, Karina; Polverino, Eva et al.
DOI: 10.1016/j.arbres.2020.11.002

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.

PMID: 33985857
Journal: NEUROMUSCULAR DISORDERS
Year: 2021
Reference: Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7.
Impact factor:
Publication type: Paper in international publication
Authors: Adoukonou, Thierry; Aryani, Omid; Barisic, Nina; Bashiri, Fahad; Bastaki, Laila; Benitto, Afaf; Bernert, Guenther; Bertini, Enrico; Borde, Patricia; Born, Peter et al.
DOI: 10.1016/j.nmd.2021.03.007

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

PMID: 34493777
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y.
Impact factor:
Publication type: Letter or abstract
Authors: Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Antinolo, Guillermo; Antonio, Victoria San; Aquino, Lourdes; Arellano, Carmen; Armstrong, Judith; Arriola, Gema et al.
DOI: 10.1038/s41598-021-97262-y

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

PMID: 33972629
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4.
Impact factor:
Publication type: Letter or abstract
Authors: Aguilera-Garcia, Domingo; Aguirre-Lamban, Jana; Aller, Elena; Allikmets, Rando; Almoguera, Berta; Alonso-Cerezo, Maria C; Antinolo, Guillermo; Arteche, Ana; Avila-Fernandez, Almudena; Ayuso, Carmen et al.
DOI: 10.1038/s41598-021-89275-4

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.

PMID: 33458589
Journal: Acta myologica : myopathies and cardiomyopathies :
Year: 2020
Reference: Acta Myol. 2020 Dec 1;39(4):336-344. doi: 10.36185/2532-1900-037. eCollection 2020 Dec.
Impact factor:
Publication type: Review in international publication
Authors: Tiziano, Francesco Danilo; Tizzano, Eduardo F et al.
DOI: 10.36185/2532-1900-037

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

PMID: 33420009
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3.
Impact factor:
Publication type: Paper in international publication
Authors: Cueto-Gonzalez, Anna M; Fernandez-Alvarez, Paula; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Tizzano, Eduardo F et al.
DOI: 10.1038/s41439-020-0105-3

Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).

PMID: 33370870
Journal: Stem Cell Research
Year: 2020
Reference: Stem Cell Res. 2020 Dec;49:102087. doi: 10.1016/j.scr.2020.102087. Epub 2020 Nov 16.
Impact factor:
Publication type: Paper in international publication
Authors: Aran, B; Corominas, R; Cusco, I; Flores, R; Kuebler, B; Perez-Jurado, L A; Veiga, A et al.
DOI: 10.1016/j.scr.2020.102087

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

PMID: 33324756
Journal: Neurology-Genetics
Year: 2020
Reference: Neurol Genet. 2020 Nov 18;6(6):e530. doi: 10.1212/NXG.0000000000000530. eCollection 2020 Dec.
Impact factor:
Publication type: Paper in international publication
Authors: Alias, Laura; Bernal, Sara; Blasco-Perez, Laura; Calucho, Maite; Cusco, Ivon; Fuentes-Prior, Pablo; Tizzano, Eduardo F et al.
DOI: 10.1212/NXG.0000000000000530

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative.

PMID: 30414226
Journal: INTERNAL MEDICINE JOURNAL
Year: 2019
Reference: Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156.
Impact factor:
Publication type: Paper in international publication
Authors: Belmatoug, Nadia; Bembi, Bruno; Bright, Jeremy; Deodato, Federica; Di Rocco, Maja; Goker-Alpan, Ozlem; Hughes, Derralynn A; Kuter, David J; Lukina, Elena A; Machaczka, Maciej et al.
DOI: 10.1111/imj.14156

Transition of patients with mucopolysaccharidosis from paediatric to adult care.

PMID: 31687335
Journal: Molecular Genetics and Metabolism Reports
Year: 2019
Reference: Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec.
Impact factor:
Publication type: Paper in international publication
Authors: Del Toro, M; Gevorkian, A K; Hendriksz, C J; Lampe, C; Lobzhanidze, T V; McNelly, B; Perez-Lopez, J; Stepien, K M; Vashakmadze, N D et al.
DOI: 10.1016/j.ymgmr.2019.100508

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

PMID: 31681265
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Baz-Redon, Noelia; Carreras, Carmen; Colobran, Roger; Cusco, Ivon; Fernandez-Cancio, Monica; Franco-Jarava, Clara; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Irastorza, Inaki et al.
DOI: 10.3389/fimmu.2019.02325

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

PMID: 31663686
Journal: Molecular Genetics & Genomic Medicine
Year: 2019
Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30.
Impact factor:
Publication type: Paper in international publication
Authors: Argudo-Ramirez, Ana; Castells, Neus; Colobran, Roger; Cueto-Gonzalez, Anna M; Marin-Soria, Jose L; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Plaja, Albert; Riviere, Jacques; Soler-Palacin, Pere et al.
DOI: 10.1002/mgg3.1016

Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease

PMID: NOPMID0074
Journal: CASE REPORTS IN PERINATAL MEDICINE
Year: 2018
Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025
Impact factor:
Publication type: Paper in international publication
Authors: Castillo, Felix; Cueto-Gonzalez, Ana; Lines, Marcos; Martinez-Saez, Elena; Tizzano, Eduardo; Valenzuela, Irene et al.
DOI: 10.1515/crpm-2017-0025

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

PMID: 28958749
Journal: ANALES DE PEDIATRIA
Year: 2018
Reference: An Pediatr (Barc). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27.
Impact factor:
Publication type: Paper in national publication
Authors: Borregan, Mar; Castells-Sarret, Neus; Cueto-Gonzalez, Anna M; Lopez-Grondona, Fermina; Miro, Rosa; Plaja, Alberto; Tizzano, Eduardo et al.
DOI: 10.1016/j.anpedi.2017.07.011

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

PMID: 29572183
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20.
Impact factor:
Publication type: Paper in international publication
Authors: Aksentijevich, Ivona; Alvarez, de la Sierra Daniel; Bodet, Domingo; Colobran, Roger; Franco-Jarava, Clara; Garcia-Latorre, Laura; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Martin-Nalda, Andrea; Plaja, Alberto et al.
DOI: 10.1016/j.clim.2018.03.009

The umbilical cord, preeclampsia and the VEGF family.

PMID: 30568515
Journal: International journal of women's health
Year: 2018
Reference: Int J Womens Health. 2018 Nov 28;10:783-795. doi: 10.2147/IJWH.S174734. eCollection 2018.
Impact factor:
Publication type: Paper in international publication
Authors: Ayala-Ramirez, Paola; Cajal, Santiago Ramon Y; Garrido, Marta; Hernandez-Losa, Javier; Olaya-C, Mercedes; Sese, Marta; Somoza, Rosa; Vargas, Magda Jimena et al.
DOI: 10.2147/IJWH.S174734

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

PMID: 28847676
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2017
Reference: Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4.
Impact factor:
Publication type: Paper in international publication
Authors: Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Di Rocco, Maja; Elstein, Deborah; Goker-Alpan, Ozlem; Hughes, Derralynn; Kuter, David J; Lukina, Elena; Mehta, Atul et al.
DOI: 10.1016/j.ymgme.2017.08.002

Provision of Genetic Services for Autism and its Impact on Spanish Families.

PMID: 28681252
Journal: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Year: 2017
Reference: J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Cusco, Ivon; Perez-Jurado, Luis A; Serra-Juhe, Clara et al.
DOI: 10.1007/s10803-017-3203-4

Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.

PMID: 28513616
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2017
Reference: Eur J Hum Genet. 2017 Aug;25(8):918-923. doi: 10.1038/ejhg.2017.76. Epub 2017 May 17.
Impact factor:
Publication type: Paper in international publication
Authors: Cordier, Christophe; Ingvoldstad, Charlotta; Moldovan, Ramona; Paneque, Milena; Pestoff, Rebecka; Serra-Juhe, Clara; Silva, Joao et al.
DOI: 10.1038/ejhg.2017.76

The perceived impact of the European registration system for genetic counsellors and nurses.

PMID: 28513617
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2017
Reference: Eur J Hum Genet. 2017 Sep;25(9):1075-1077. doi: 10.1038/ejhg.2017.84. Epub 2017 May 17.
Impact factor:
Publication type: Paper in international publication
Authors: Bjornevoll, Inga; Cordier, Christophe; Feroce, Irene; Haquet, Emmanuelle; Lambert, Debby; Moldovan, Ramona; Paneque, Milena; Pasalodos, Sara; Serra-Juhe, Clara; Skirton, Heather et al.
DOI: 10.1038/ejhg.2017.84

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

PMID: 27406248
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2016
Reference: Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13.
Impact factor:
Publication type: Paper in international publication
Authors: Avela, Kristiina; Bache, Iben; Bakkers, Jeroen; Brunner, Han G; Chocron, Sonja; Claes, Godelieve Rf; Krapels, Ingrid P C; Lundin, Catarina; Maroun, Lisa Leth; Nagy, Balint et al.
DOI: 10.1038/ejhg.2016.91

Simultaneous bilateral atypical femoral fracture in a patient receiving denosumab: case report and literature review.

PMID: 26501556
Journal: OSTEOPOROSIS INTERNATIONAL
Year: 2016
Reference: Osteoporos Int. 2016 Feb;27(2):827-32. doi: 10.1007/s00198-015-3355-z.
Impact factor:
Publication type: Paper in international publication
Authors: Garrido, M; Lalanza, M; Minguell, J; Nunez, J H; Selga, J et al.
DOI: 10.1007/s00198-015-3355-z

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

PMID: 27404287
Journal: Translational Psychiatry
Year: 2016
Reference: Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, M; Cusco, I; Homs, A; Monk, D; Perez-Jurado, L A; Rodriguez-Santiago, B; Villanueva, C M et al.
DOI: 10.1038/tp.2016.120

[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].

PMID: 27816186
Journal: MEDICINA CLINICA
Year: 2016
Reference: Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3.
Impact factor:
Publication type: Paper in national publication
Authors: Aldamiz Echevarri Azuara, Luis Jose; Campistol, Jaume; Ceberio-Hualde, Leticia; Couce, M Luz; Del Toro, Mireia; Garcia Morillo, Jose Salvador; Garcia-Silva, Maria Teresa; Gonzalez Gutierrez-Solana, Luis; Grau-Junyent, Josep M; Hermida Ameijeiras, Alvaro et al.
DOI: 10.1016/j.medcli.2016.09.018

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

PMID: 25703627
Journal: HUM MUTAT
Year: 2015
Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6.
Impact factor:
Publication type: Review in national publication
Authors: De Paepe, Anne; Del Campo, Miguel; Hausser, Ingrid; Hermanns-Le, Trinh; Maiburg, Merel C; Malfait, Fransiska; Morton, Jenny; Suri, Mohnish; Symoens, Sofie; Syx, Delfien et al.
DOI: 10.1002/humu.22774

Metabolic abnormalities in Williams-Beuren syndrome.

PMID: 25663682
Journal: J MED GENET
Year: 2015
Reference: J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6.
Impact factor:
Publication type: Paper in international publication
Authors: Borralleras, Cristina; Campuzano, Victoria; Del Campo, Miguel; Flores, Raquel; Palacios-Verdu, Maria Gabriela; Perez-Jurado, Luis Alberto; Segura-Puimedon, Maria et al.
DOI: 10.1136/jmedgenet-2014-102713

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID: 25969726
Journal: MOL AUTISM
Year: 2015
Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.
Impact factor:
Publication type: Paper in international publication
Authors: Antinolo, Guillermo; Aznar-Lain, Gemma; Botella, Maria Pilar; Codina-Sola, Marta; Cusco, Ivon; Del Campo, Miguel; Gabau, Elisabeth; Gener, Blanca; Gutierrez-Arumi, Armand; Homs, Aida et al.
DOI: 10.1186/s13229-015-0017-0

Recomendaciones para el uso clínico del microarray genómico en diagnóstico prenatal

PMID: 0003nopmid
Journal: Prog Obstet Ginecol
Year: 2015
Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473
Impact factor:
Publication type: Paper in national publication
Authors: Armengol, Lluis; Borrell, Antoni; Campo Casanelles, Miguel del; Casals, Elena; Chica, Rosana de la; Cirigliano , Vincenzo; Figueras, Francesc; Plaja Rustein, Alberto et al.
DOI: 10.1016/j.pog.2015.05.003

Whole-body MRI for initial staging of paediatric lymphoma: prospective comparison to an FDG-PET/CT-based reference standard.

PMID: 24563179
Journal: EUROPEAN RADIOLOGY
Year: 2014
Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23.
Impact factor:
Publication type: Paper in international publication
Authors: Barber, Ignasi; Beek, Frederik J A; Bierings, Marc B; de Keizer, Bart; Enriquez, Goya; Granata, Claudio; Hobbelink, Monique G; Kwee, Thomas C; Littooij, Annemieke S; Nievelstein, Rutger A J et al.
DOI: 10.1007/s00330-014-3114-0

Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.

PMID: 24954233
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2014
Reference: Dev Med Child Neurol. 2014 Dec;56(12):1207-11. doi: 10.1111/dmcn.12523. Epub 2014 Jun 21.
Impact factor:
Publication type: Paper in international publication
Authors: Boronat, Susana; Caruso, Paul; Thiele, Elizabeth A et al.
DOI: 10.1111/dmcn.12523

Arachnoid cysts in tuberous sclerosis complex.

PMID: 24325802
Journal: BRAIN & DEVELOPMENT
Year: 2014
Reference: Brain Dev. 2014 Oct;36(9):801-6. doi: 10.1016/j.braindev.2013.11.003. Epub 2013 Dec 8.
Impact factor:
Publication type: Paper in international publication
Authors: Auladell, Maria; Boronat, Susana; Caruso, Paul; Thiele, Elizabeth Anne; Van Eeghen, Agnies et al.
DOI: 10.1016/j.braindev.2013.11.003

Nonsyndromic familial aortic disease: an underdiagnosed entity.

PMID: 25200617
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2014
Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8.
Impact factor:
Publication type: Letter or abstract
Authors: Borregan, Mar; del Campo, Miguel; Evangelista, Artur; Gutierrez, Laura; Teixido-Tura, Gisela; Valenzuela, Irene et al.
DOI: 10.1016/j.rec.2014.06.003

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID: 23522784
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2013
Reference: Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.
Impact factor:
Publication type: Paper in international publication
Authors: Abdel-Salam, Ghada; Aglan, Mona; Al-Zahrani, Fatema; Alkuraya, Fowzan S; Ansari, Shinu; Ashour, Adel; Cueto-Gonzalez, Anna M; Faqeih, Eissa; Horton, Kim; Keppler-Noreuil, Kim et al.
DOI: 10.1016/j.ajhg.2013.02.012

Congenital lung malformations: radiological findings and clues for differential diagnosis.

PMID: 23436824
Journal: ACTA RADIOLOGICA
Year: 2013
Reference: Acta Radiol. 2013 Nov;54(9):1086-95. doi: 10.1177/028418511305400901. Epub 2013 Apr 30.
Impact factor:
Publication type: Review in international publication
Authors: Coma, Ana; Enriquez, Goya; Garcia-Pena, Pilar et al.
DOI: 10.1177/028418511305400901

Reversal of hyperoxaluric cardiomyopathy with severe cardiac dysfunction after combined liver and kidney transplantation.

PMID: 24775460
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2013
Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.rec.2012.06.018. Epub 2012 Sep 25.
Impact factor:
Publication type: Letter whit IF
Authors: Albert, Dimpna C; Betrian, Pedro; Garrido, Marta; Giralt, Gemma; Girona, Josep; Madrid, Alvaro et al.
DOI: 10.1016/j.rec.2012.06.018

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.

PMID: 23894094
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2013
Reference: Am J Med Genet A. 2013 Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25.
Impact factor:
Publication type: Paper in international publication
Authors: Barranco, Laura; Barrena, Beatriz; Campo, Miguel Del; Catala, Vicenc; Fernandez, Asuncion; Herrero, Marta; Lloveras, Elisabet; Lopez-Ariztegui, M Asuncion; Martinez-Bouzas, Cristina; Palau, Nuria et al.
DOI: 10.1002/ajmg.a.36102

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

PMID: 23122587
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2012
Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
Impact factor:
Publication type: Paper in international publication
Authors: Admiraal, Ronald J C; Beynon, Andy J; del Campo, Miguel; del Castillo, Francisco J; del Castillo, Ignacio; Dominguez-Ruiz, Maria; Garcia-Arumi, Ana M; Hoefsloot, Lies H; Kalay, Ersan; Kremer, Hannie et al.
DOI: 10.1016/j.ajhg.2012.09.012

Contribution of rare copy number variants to isolated human malformations.

PMID: 23056206
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.
Impact factor:
Publication type: Paper in international publication
Authors: Camats, Nuria; Cusco, Ivon; Perez-Jurado, Luis A; Rodriguez-Santiago, Benjamin; Serra-Juhe, Clara; Toran, Nuria; Vendrell, Teresa et al.
DOI: 10.1371/journal.pone.0045530

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

PMID: 22972573
Journal: REVISTA DE NEUROLOGIA
Year: 2012
Reference: Rev Neurol. 2012 Sep 16;55(6):321-9.
Impact factor:
Publication type: Letter or abstract
Authors: Boronat-Guerrero, S; Del Toro-Riera, M; Flotats-Bastardas, M; Macaya-Ruiz, A; Munell, F; Ortega-Aznar, A; Raspall-Chaure, M; Roig-Quilis, M; Sanchez-Montanez, A; Vazquez-Mendez, E et al.
DOI:

Clinical guidelines for late-onset Pompe disease.

PMID: 22492103
Journal: REVISTA DE NEUROLOGIA
Year: 2012
Reference: Rev Neurol. 2012 Apr 16;54(8):497-507.
Impact factor:
Publication type: Letter or abstract
Authors: Barba-Romero, M A; Barrot, E; Bautista-Lorite, J; Gutierrez-Rivas, E; Illa, I; Jimenez, L M; Ley-Martos, M; Lopez de Munain, A; Pardo, J; Pascual-Pascual, S I et al.
DOI:

White hemithorax in children.

PMID: 21553041
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7.
Impact factor:
Publication type: Review in international publication
Authors: Enriquez, Goya; Garces-Inigo, Enrique F; Garcia-Pena, Pilar; Lucaya, Javier; Piqueras, Joaquim et al.
DOI: 10.1007/s00247-011-2065-8

[Mid-aortic syndrome: case studies from a paediatric nephrology department].

PMID: 21398195
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12.
Impact factor:
Publication type: Letter or abstract
Authors: Castellote Alonso, A; Chocron de Benzaquen, S; Enriquez, G; Madrid Aris, A D; Munoz Lopez, M; Nieto Rey, J L et al.
DOI: 10.1016/j.anpedi.2011.01.026

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings.

PMID: 21768243
Journal: RADIOGRAPHICS
Year: 2011
Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180.
Impact factor:
Publication type: Review in international publication
Authors: Barber, Ignasi; Delgado, Ignacio; Enriquez, Goya; Sanchez-Montanez, Angel; Sanchez-Toledo, Jose; Vazquez, Elida et al.
DOI: 10.1148/rg.314105180

Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome.

PMID: 21771150
Journal: JOURNAL OF PAEDIATRICS AND CHILD HEALTH
Year: 2011
Reference: J Paediatr Child Health. 2011 Jul;47(7):485-6. doi: 10.1111/j.1440-1754.2011.02136.x.
Impact factor:
Publication type: Letter or abstract
Authors: Fernandez-San Jose, Carolina; Martin-Nalda, Andrea; Soler-Palacin, Pere; Vendrell Bayona, Teresa et al.
DOI: 10.1111/j.1440-1754.2011.02136.x

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

PMID: 20232139
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2010
Reference: Breast Cancer Res Treat. 2010 Sep;123(2):587-90. Epub 2010 Mar 16.
Impact factor:
Publication type: Paper in international publication
Authors: Arcusa, Angels; Diez, Orland; Gutierrez-Enriquez, Sara; Llort, Gemma; Masas, Miriam; Tenes, Anna; Yague, Carme et al.
DOI: 10.1007/s10549-010-0830-2

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

PMID: 19649703
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2010
Reference: Breast Cancer Res Treat. 2010 May;121(1):221-5. Epub 2009 Aug 1.
Impact factor:
Publication type: Paper in international publication
Authors: Balmana, Judith; Diez, Orland; Gadea, Neus; Gutierrez-Enriquez, Sara; Masas, Miriam; Mediano, Carmen; Saura, Cristina et al.
DOI: 10.1007/s10549-009-0494-y

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

PMID: 20503313
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Jun;152A(6):1390-7.
Impact factor:
Publication type: Paper in international publication
Authors: Belinchon, Alberta; Benito-Sanz, Sara; Campos-Barros, Angel; Del Campo, Miguel; Esteban-Marfil, Victoria; Fernandez, Luis; Garcia-Minaur, Sixto; Gomez-Puertas, Paulino; Gracia-Bouthelier, Ricardo; Guillen-Navarro, Encarna et al.
DOI: 10.1002/ajmg.a.33453

Assessment of QF-PCR as the first approach in prenatal diagnosis.

PMID: 20889556
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2010
Reference: J Mol Diagn. 2010 Nov;12(6):828-34. Epub 2010 Oct 1.
Impact factor:
Publication type: Paper in international publication
Authors: Badenas, Celia; Borrell, Antoni; Clusellas, Nuria; Jimenez, Wladimiro; Mediano, Carmen; Mila, Montserrat; Miro, Elisabeth; Morales, Carme; Perez-Iribarne, Ma Mar; Plaja, Alberto et al.
DOI: 10.2353/jmoldx.2010.090224

Pitfalls in chest imaging.

PMID: 19440754
Journal: PEDIATRIC RADIOLOGY
Year: 2009
Reference: Pediatr Radiol. 2009 Jun;39 Suppl 3:356-68. doi: 10.1007/s00247-009-1228-3.
Impact factor:
Publication type: Review in international publication
Authors: Enriquez, Goya; Garcia-Pena, Pilar; Lucaya, Javier et al.
DOI: 10.1007/s00247-009-1228-3

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

PMID: 19350654
Journal: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Year: 2009
Reference: Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9.
Impact factor:
Publication type: Paper in international publication
Authors: Bakhireva, Ludmila N; Chambers, Christina D; del Campo, Miguel; Hoyme, H Eugene; Jones, Kenneth Lyons; Manning, Melanie A; Prewitt, Lela M; Robinson, Luther K et al.
DOI: 10.1002/bdra.20585

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

PMID: 18712473
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2009
Reference: Breast Cancer Res Treat. 2009 Sep;117(2):461-5. Epub 2008 Aug 19.
Impact factor:
Publication type: Paper in international publication
Authors: Balmana, Judith; Coderch, Veronica; Diez, Orland; Gutierrez-Enriquez, Sara; Masas, Miriam et al.
DOI: 10.1007/s10549-008-0154-7

[Intracranial hypertension associated with cerebral venous sinus thrombosis and mastoiditis. Two paediatric case reports]

PMID: 19859877
Journal: REVISTA DE NEUROLOGIA
Year: 2009
Reference: Rev Neurol. 2009 Nov 16-30;49(10):529-32.
Impact factor:
Publication type: Paper in national publication
Authors: Boronat-Guerrero, S; del Toro-Riera, M; Roig-Quilis, M; Vazquez-Mendez, E; Velasco-Puyo, P et al.
DOI:

Thesis

Dinámicas volumétricas tisulares de las crestas palatinas integradas en los procesos maxilares: estudio estereológico durante el periodo embrionario humano

PhD student: Anna Maria Cueto Gonzalez, Anna Maria Cueto Gonzalez
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2016

Estudio histológico y nanoscópico con espectroscopia RAMAN del desarrollo pulmonar en la oclusión traqueal precoz como terapia fetal de la hipoplasia pulmonar en la hernia diafragmática congénita en el feto ovino

PhD student: Maite Calucho Prim
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2014

Utilidad de la ultrasonografía-dupplex de la arteria temporal en el diagnóstico y seguimiento de la arteritis de células gigantes

PhD student: Jorge Pérez López
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2007

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