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American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
Ear and Hearing|July 13, 2023
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing LossAnke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Cell Cycle (Georgetown, Tex.)|August 23, 2011
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephalyJuan Alberto Marchal, Mahdi Ghani, Detlev Schindler, et al.
Scientific Reports|September 23, 2025
Population-specific calibration and validation of an open-source bone age AISebastian Rassmann, Luka Abashishvili, Elene Melikidze, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 1, 2020
New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trialHarm Wienbergen, Andreas Fach, Jeanette Erdmann, 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.
American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
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