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American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
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