Showing results (91-100 of 281) with videos related to
Sort By:
Pageof 29
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.Plos One|June 21, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani familiesSobia Shafique, Saima Siddiqi, Margit Schraders, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 27, 2016
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-upMichael Zech, Sylvia Boesch, Angela Jochim, et al.European Journal of Human Genetics : EJHG|June 26, 2008
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, et al.Sleep|September 9, 2014
HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiencyFang Han, Ling Lin, Barbara Schormair, et al.Journal of Neurology|December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrumMartin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 25, 2007
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's diseaseDietrich Haubenberger, Silvia Bonelli, Christoph Hotzy, et al.Human Molecular Genetics|February 14, 2012
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann, Ling Lin, Barbara Schormair, et al.Human Molecular Genetics|February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disordersTheresa Brunet, Riccardo Berutti, Veronika Dill, et al.Circulation. Cardiovascular Genetics|December 18, 2009
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancyFrank Rutsch, Petra Böyer, Yvonne Nitschke, et al.Pageof 29