Showing results (21-30 of 27) with videos related to
Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.Genetics in Medicine Open|August 23, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsJoshua L Deignan, Vimla Aggarwal, Allen E Bale, et al.American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.Neurology|October 28, 2022
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5Hannah C Happ, Lynette G Sadleir, Matthew Zemel, et al.Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.Pageof 3