Showing results (81-90 of 281) with videos related to
Sort By:
Pageof 29
Journal of Medical Genetics|October 6, 2010
Cohen syndrome diagnosis using whole genome arraysNuria Rivera-Brugués, Beate Albrecht, Dagmar Wieczorek, et al.American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.Circulation. Cardiovascular Genetics|January 22, 2011
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathiesBenjamin Meder, Jan Haas, Andreas Keller, et al.Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.Neurogenetics|August 30, 2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencingMichael Zech, Robert Jech, Matias Wagner, et al.Nature Genetics|February 7, 2018
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronismFabio L Fernandes-Rosa, Georgios Daniil, Ian J Orozco, et al.American Journal of Human Genetics|June 19, 2012
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type VChristian Beetz, Thomas R Pieber, Nicole Hertel, et al.Journal of Hepatology|May 7, 2016
Severe respiratory complex III defect prevents liver adaptation to prolonged fastingLaura S Kremer, Caroline L'hermitte-Stead, Pierre Lesimple, et al.Pageof 29