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Open Biology|August 1, 2014
The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing lossTae-Jun Kwon, Se-Kyung Oh, Hong-Joon Park, et al.American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.Physiological Genomics|August 13, 2009
Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 proteinHee Keun Lee, Mee Hyun Song, Myengmo Kang, et al.Cell Metabolism|September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex IJessica Nouws, Leo Nijtmans, Sander M Houten, et al.Frontiers in Microbiology|October 9, 2014
Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasisDiana C Rosentul, Corine E Delsing, Martin Jaeger, et al.European Journal of Human Genetics : EJHG|August 21, 2014
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraineSe-Kyung Oh, Jeong-In Baek, Karl M Weigand, et al.Journal of the Association for Research in Otolaryngology : JARO|July 26, 2011
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole J D Weegerink, Margit Schraders, Jaap Oostrik, et al.American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.Plos One|March 17, 2011
Mass spectrometry analysis of hepcidin peptides in experimental mouse modelsHarold Tjalsma, Coby M M Laarakkers, Rachel P L van Swelm, et al.Pageof 13