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Cell Death Discovery|August 13, 2022
Functional antagonism between CagA and DLC1 in gastric cancerIsabel Hinsenkamp, Jan P Köhler, Christoph Flächsenhaar, et al.
Circulation Research|April 19, 2012
Role of RyR2 phosphorylation at S2814 during heart failure progressionJonathan L Respress, Ralph J van Oort, Na Li, et al.
The Journal of Clinical Endocrinology and Metabolism|March 13, 2015
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomasUrs D Lichtenauer, Guido Di Dalmazi, Emily P Slater, 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 Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, 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.
International Journal of Cardiology|February 7, 2018
Estradiol protection against toxic effects of catecholamine on electrical properties in human-induced pluripotent stem cell derived cardiomyocytesIbrahim El-Battrawy, Zhihan Zhao, Huan Lan, 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.
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