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American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.
Clinical Case Reports|August 28, 2018
The <i>ASXL1</i> mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz SyndromeRoser Urreizti, Semra Gürsoy, Laura Castilla-Vallmanya, et al.
Medicine|March 1, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGTSamantha Mason, Laura Castilla-Vallmanya, Con James, et al.
International Journal of Molecular Sciences|February 9, 2021
<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous FamilyLaura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, et al.
Scientific Reports|January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C SyndromeRoser Urreizti, Sarah Damanti, Carla Esteve, et al.
Journal of Clinical Medicine|March 4, 2020
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug DevelopmentNoelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 16, 2023
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular numberClara Oliva, Angela Arias, Montserrat Ruiz, et al.
European Journal of Human Genetics : EJHG|March 17, 2019
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Nature Structural & Molecular Biology|June 4, 2024
Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and diseaseVivien Horváth, Raquel Garza, Marie E Jönsson, et al.
European Journal of Human Genetics : EJHG|September 4, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
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