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American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Science Signaling|March 31, 2016
Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibitionKristopher T Kahle, Jean-François Schmouth, Valérie Lavastre, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
A secondary β-hydroxybutyrate metabolic pathway linked to energy balanceMaria Dolores Moya-Garzon, Mengjie Wang, Veronica L Li, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Frontiers in Education|December 17, 2024
The Professional Identity of STEM Faculty as Instructors of Course-based Research ExperiencesDavid Hanauer, Richard Alvey, Ping An, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
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