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Human mutation

Showing results (641-650 of 6,544) with videos related to

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Human Mutation|February 12, 2000
A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. OnlineA Faiella, M Zortea, E Barbaria, et al.
Human Mutation|February 5, 2000
hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. OnlineL Panariello, M I Scarano, M de Rosa, et al.
Human Mutation|February 5, 2000
Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. OnlineG J Cote, J E Lee, D B Evans, et al.
Human Mutation|January 29, 2000
Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. OnlineI M Frayling, J G Armstrong, D R Davies, et al.
Human Mutation|January 29, 2000
Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. OnlineS Gretarsdóttir, G H Olafsdóttir, A Borg
Human Mutation|January 29, 2000
Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in brief no. 174. OnlineR Jardi, F Rodriguez, M Miravitlles, et al.
Human Mutation|January 29, 2000
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan AfricaR Kerr, G Stevens, P Manga, et al.
Human Mutation|January 29, 2000
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patientsF Godart, C Bellanné-Chantelot, S Clauin, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Human Mutation|January 29, 2000
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definitionC Busquets, M J Coll, A Ribes
Pageof 655

Showing results (641-650 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|February 12, 2000
A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. OnlineA Faiella, M Zortea, E Barbaria, et al.
Human Mutation|February 5, 2000
hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. OnlineL Panariello, M I Scarano, M de Rosa, et al.
Human Mutation|February 5, 2000
Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. OnlineG J Cote, J E Lee, D B Evans, et al.
Human Mutation|January 29, 2000
Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. OnlineI M Frayling, J G Armstrong, D R Davies, et al.
Human Mutation|January 29, 2000
Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. OnlineS Gretarsdóttir, G H Olafsdóttir, A Borg
Human Mutation|January 29, 2000
Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in brief no. 174. OnlineR Jardi, F Rodriguez, M Miravitlles, et al.
Human Mutation|January 29, 2000
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan AfricaR Kerr, G Stevens, P Manga, et al.
Human Mutation|January 29, 2000
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patientsF Godart, C Bellanné-Chantelot, S Clauin, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Human Mutation|January 29, 2000
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definitionC Busquets, M J Coll, A Ribes
Pageof 655