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Journal of the American College of Cardiology|August 19, 2017
Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo CardiomyopathyThomas Borchert, Daniela Hübscher, Celina I Guessoum, et al.Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.Molecular Oncology|September 10, 2024
KRASG 12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screeningConstanza Tapia Contreras, Jonas Dominik Falke, Dana-Magdalena Seifert, et al.American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.Pageof 17