Showing results (191-200 of 202) with videos related to
Sort By:
Pageof 21
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.European Journal of Cancer (Oxford, England : 1990)|February 12, 2021
Clinical practice guidelines for BRCA1 and BRCA2 genetic testingPascal Pujol, Massimo Barberis, Philp Beer, et al.Journal of Medical Genetics|August 1, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsMathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderJérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.Pageof 21