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Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.Nature Communications|March 1, 2019
An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomicsIlias Angelidis, Lukas M Simon, Isis E Fernandez, et al.American Journal of Physiology. Endocrinology and Metabolism|January 9, 2019
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humansStephan Sachs, Simona Zarini, Darcy E Kahn, et al.Stem Cell Research & Therapy|November 4, 2025
Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathyKonstanze Stangner, Orsela Dervishi, Janina Kuhnert, et al.Plos One|November 19, 2013
Rare variants in PLXNA4 and Parkinson's diseaseEva C Schulte, Immanuel Stahl, Darina Czamara, et al.Nature Genetics|December 9, 2014
Mutations in the deubiquitinase gene USP8 cause Cushing's diseaseMartin Reincke, Silviu Sbiera, Akira Hayakawa, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 25, 2016
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasiaSusanne Diener, Sieglinde Bayer, Sibylle Sabrautzki, et al.American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.Pageof 11