Human mutation - JoVE Visualize

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Human Mutation|July 29, 1999

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exonP Maillet, N Dalla Venezia, F Lorenzo, et al.

Human Mutation|July 29, 1999

Identification of 9 novel FBN1 mutations in German patients with Marfan syndromeA A El-Aleem, M Karck, A Haverich, et al.

Human Mutation|September 8, 1999

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTL Christiansen, C Ged, I Hombrados, et al.

Human Mutation|September 8, 1999

Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidusJ L Rocha, E Friedman, W Boson, et al.

Human Mutation|September 8, 1999

Molecular basis of late-life globoid cell leukodystrophyR De Gasperi, M A Gama Sosa, E Sartorato, et al.

Human Mutation|September 8, 1999

Novel genetic polymorphisms in DNA repair genes: O(6)-methylguanine-DNA methyltransferase (MGMT) and N-methylpurine-DNA glycosylase (MPG) in lung cancer patients from PolandM Rusin, A Samojedny, C C Harris, et al.

Human Mutation|August 14, 1999

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophyJ E Cleaver, L H Thompson, A S Richardson, et al.

Human Mutation|August 14, 1999

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinismB Glaser, J Furth, C A Stanley, et al.

Human Mutation|August 14, 1999

Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. OnlineR Haas, B Gutierrez-Rivero, J Knoche, et al.

Human Mutation|August 14, 1999

Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. OnlineJ J Tellería, M J Alonso, C Calvo, et al.

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Showing results (1791-1800 of 5,734) with videos related to

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Pageof 574

Human Mutation|July 29, 1999

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exonP Maillet, N Dalla Venezia, F Lorenzo, et al.

Human Mutation|July 29, 1999

Identification of 9 novel FBN1 mutations in German patients with Marfan syndromeA A El-Aleem, M Karck, A Haverich, et al.

Human Mutation|September 8, 1999

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTL Christiansen, C Ged, I Hombrados, et al.

Human Mutation|September 8, 1999

Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidusJ L Rocha, E Friedman, W Boson, et al.

Human Mutation|September 8, 1999

Molecular basis of late-life globoid cell leukodystrophyR De Gasperi, M A Gama Sosa, E Sartorato, et al.

Human Mutation|September 8, 1999

Novel genetic polymorphisms in DNA repair genes: O(6)-methylguanine-DNA methyltransferase (MGMT) and N-methylpurine-DNA glycosylase (MPG) in lung cancer patients from PolandM Rusin, A Samojedny, C C Harris, et al.

Human Mutation|August 14, 1999

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophyJ E Cleaver, L H Thompson, A S Richardson, et al.

Human Mutation|August 14, 1999

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinismB Glaser, J Furth, C A Stanley, et al.

Human Mutation|August 14, 1999

Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. OnlineR Haas, B Gutierrez-Rivero, J Knoche, et al.

Human Mutation|August 14, 1999

Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. OnlineJ J Tellería, M J Alonso, C Calvo, et al.

Pageof 574