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American Journal of Medical Genetics. Part A|March 3, 2015
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletionNicolas Chatron, Véronique Haddad, Joris Andrieux, et al.Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.Clinical Genetics|April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplicationAlexis Billes, Mathilde Pujalte, Guillaume Jedraszak, et al.American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.Journal of Medical Genetics|October 8, 2025
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literatureMarion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, et al.The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.Pageof 12