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Human Mutation|January 1, 1996
Mutation detection by solid phase primer extensionJ M Shumaker, A Metspalu, C T CaskeyHuman Mutation|January 1, 1997
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) geneJ A van den Hurk, M Schwartz, H van Bokhoven, et al.Human Mutation|January 1, 1997
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresisH Nissen, N E Petersen, S Mustajoki, et al.Human Mutation|January 1, 1997
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrentJ Körkkö, H Kuivaniemi, P Paassilta, et al.Human Mutation|January 1, 1997
Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation testA J Rowan, W F BodmerHuman Mutation|January 1, 1995
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B geneD R TolanHuman Mutation|January 1, 1995
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutationR Varon, M Stuhrmann, M Macek, et al.Human Mutation|January 1, 1995
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cellsT G Jensen, P Bross, B S Andresen, et al.Human Mutation|January 26, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasiaN Chassaing, S Bourthoumieu, M Cossee, et al.Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.Pageof 574