Showing results (121-130 of 152) with videos related to

Sort By:
Pageof 16
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Frontiers in Immunology|January 31, 2022
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient CohortKaryl S Barron, Ivona Aksentijevich, Natalie T Deuitch, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Medrxiv : the Preprint Server for Health Sciences|January 30, 2023
Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretionGiampaolo Trivellin, Adrian F Daly, Laura C Hernández-Ramírez, et al.
Frontiers in Endocrinology|June 30, 2023
Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretionGiampaolo Trivellin, Adrian F Daly, Laura C Hernández-Ramírez, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Pageof 16