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Neurology. Genetics|July 9, 2020
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma geneYing Hong, Annette Keylock, Barbara Jensen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2024
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variantsJenny Lord, Carolina J Oquendo, Htoo A Wai, et al.Brain : a Journal of Neurology|January 31, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1AThomas D Cushion, William B Dobyns, Jonathan G L Mullins, et al.Clinical Genetics|January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeJessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.Journal of the National Cancer Institute|March 2, 2006
PMS2 mutations in childhood cancerMichel De Vos, Bruce E Hayward, Ruth Charlton, et al.Journal of Medical Genetics|August 6, 2026
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testingSian Ellard, Helen Hanson, Emma-Jane Cassidy, et al.Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.Genes & Development|October 16, 2020
PRIM1 deficiency causes a distinctive primordial dwarfism syndromeDavid A Parry, Lukas Tamayo-Orrego, Paula Carroll, et al.American Journal of Human Genetics|December 27, 2016
De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeHannah Sleven, Seth J Welsh, Jing Yu, et al.American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.Pageof 7