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Human mutation

Showing results (791-800 of 6,545) with videos related to

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Human Mutation|March 25, 1999
Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. OnlineM I Scarano, M De Rosa, L Panariello, et al.
Human Mutation|March 25, 1999
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. OnlineM Ebhardt, H Schmidt, T Doerk, et al.
Human Mutation|March 25, 1999
Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. OnlineG Flatz, K Wilke, Y V Syagailo, et al.
Human Mutation|March 27, 1999
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumorA S Barbosa, C G Hadjiathanasiou, C Theodoridis, et al.
Human Mutation|March 27, 1999
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. OnlineM Ikezawa, I Nishino, Y Goto, et al.
Human Mutation|March 27, 1999
Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay. Mutations in brief no. 214. OnlineC Andreutti-Zaugg, A Couturier, P Chappuis, et al.
Human Mutation|March 27, 1999
Identification of eleven novel tumor-associated E-cadherin mutations. Mutations in brief no. 215. OnlineK F Becker, U Reich, C Schott, et al.
Human Mutation|March 27, 1999
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. OnlineS F Witchel, R Smith, M Suda-Hartman
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
Human Mutation|March 27, 1999
Human genetic diseases of proteolysisG J Kato
Pageof 655

Showing results (791-800 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|March 25, 1999
Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. OnlineM I Scarano, M De Rosa, L Panariello, et al.
Human Mutation|March 25, 1999
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. OnlineM Ebhardt, H Schmidt, T Doerk, et al.
Human Mutation|March 25, 1999
Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. OnlineG Flatz, K Wilke, Y V Syagailo, et al.
Human Mutation|March 27, 1999
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumorA S Barbosa, C G Hadjiathanasiou, C Theodoridis, et al.
Human Mutation|March 27, 1999
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. OnlineM Ikezawa, I Nishino, Y Goto, et al.
Human Mutation|March 27, 1999
Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay. Mutations in brief no. 214. OnlineC Andreutti-Zaugg, A Couturier, P Chappuis, et al.
Human Mutation|March 27, 1999
Identification of eleven novel tumor-associated E-cadherin mutations. Mutations in brief no. 215. OnlineK F Becker, U Reich, C Schott, et al.
Human Mutation|March 27, 1999
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. OnlineS F Witchel, R Smith, M Suda-Hartman
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
Human Mutation|March 27, 1999
Human genetic diseases of proteolysisG J Kato
Pageof 655