Showing results (181-190 of 202) with videos related to
Sort By:
Pageof 21
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.Brain : a Journal of Neurology|September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsJohann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.Pageof 21