Showing results (51-60 of 56) with videos related to
Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
American Journal of Human Genetics|April 17, 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar DysgenesisHeather E Olson, Nolwenn Jean-Marçais, Edward Yang, et al.American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.Annals of the Rheumatic Diseases|July 22, 2022
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndromeChristina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.Pageof 6