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Human Molecular Genetics|October 23, 2009
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complexWeizhong Chang, Aileen M Barnes, Wayne A Cabral, et al.Human Molecular Genetics|February 1, 1993
Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysisA P Shuber, J Skoletsky, R Stern, et al.Human Molecular Genetics|March 1, 1993
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissuesE F Tizzano, D Chitayat, M BuchwaldHuman Molecular Genetics|July 1, 1997
Visual pigment gene structure and expression in human retinaeT Yamaguchi, A G Motulsky, S S DeebHuman Molecular Genetics|July 1, 1997
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11P Reed, F Cucca, S Jenkins, et al.Human Molecular Genetics|July 1, 1997
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)B Burwinkel, A J Maichele, O Aagenaes, et al.Human Molecular Genetics|July 1, 1997
Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNAR Rozmahel, K Gyömörey, S Plyte, et al.Human Molecular Genetics|July 1, 1997
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1I Lemmens, W J Van de Ven, K Kas, et al.Human Molecular Genetics|May 1, 1994
Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymesD W Hein, R J Ferguson, M A Doll, et al.Human Molecular Genetics|May 1, 1994
An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21D Nizetić, L Gellen, R M Hamvas, et al.Pageof 1,196