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Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.
Molecular Genetics and Metabolism Reports|June 18, 2021
MAN1B1-CDG: Three new individuals and associated biochemical profilesSoraya Sakhi, Sophie Cholet, Samer Wehbi, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
Clinical Genetics|December 4, 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewHussam Al-Kateb, P Y Billie Au, Siren Berland, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
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