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Human mutation

Showing results (101-110 of 6,539) with videos related to

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Human Mutation|October 29, 2002
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer familiesCatherine M Phelan, Elaine Kwan, Elaine Jack, et al.
Human Mutation|October 29, 2002
Different molecular mechanisms underlie genomic deletions in the MLH1 GeneAlessandra Viel, Fiorella Petronzelli, Lara Della Puppa, et al.
Human Mutation|October 29, 2002
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiencyConsuelo Climent, Vicente Rubio
Human Mutation|October 29, 2002
Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastomaKwong Wai Choy, Chi Pui Pang, Christopher B O Yu, et al.
Human Mutation|October 29, 2002
Novel O6-methylguanine-DNA methyltransferase SNPs: a frequency comparison of patients with familial melanoma and healthy individuals in SwedenS Egyházi, S Ma, K Smoczynski, et al.
Human Mutation|October 29, 2002
The detection of large deletions or duplications in genomic DNAJ A L Armour, D E Barton, D J Cockburn, et al.
Human Mutation|October 29, 2002
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic featuresMaria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, et al.
Human Mutation|October 29, 2002
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intoleranceYutaka Shoji, Atsuko Noguchi, Yasuko Shoji, et al.
Human Mutation|October 29, 2002
DHPLC analysis of potassium ion channel genes in congenital long QT syndromeRoselie Jongbloed, Carlo Marcelis, Crool Velter, et al.
Human Mutation|October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutationsHeidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.
Pageof 654

Showing results (101-110 of 6,539) with videos related to

Sort By:
Pageof 654
Human Mutation|October 29, 2002
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer familiesCatherine M Phelan, Elaine Kwan, Elaine Jack, et al.
Human Mutation|October 29, 2002
Different molecular mechanisms underlie genomic deletions in the MLH1 GeneAlessandra Viel, Fiorella Petronzelli, Lara Della Puppa, et al.
Human Mutation|October 29, 2002
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiencyConsuelo Climent, Vicente Rubio
Human Mutation|October 29, 2002
Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastomaKwong Wai Choy, Chi Pui Pang, Christopher B O Yu, et al.
Human Mutation|October 29, 2002
Novel O6-methylguanine-DNA methyltransferase SNPs: a frequency comparison of patients with familial melanoma and healthy individuals in SwedenS Egyházi, S Ma, K Smoczynski, et al.
Human Mutation|October 29, 2002
The detection of large deletions or duplications in genomic DNAJ A L Armour, D E Barton, D J Cockburn, et al.
Human Mutation|October 29, 2002
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic featuresMaria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, et al.
Human Mutation|October 29, 2002
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intoleranceYutaka Shoji, Atsuko Noguchi, Yasuko Shoji, et al.
Human Mutation|October 29, 2002
DHPLC analysis of potassium ion channel genes in congenital long QT syndromeRoselie Jongbloed, Carlo Marcelis, Crool Velter, et al.
Human Mutation|October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutationsHeidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.
Pageof 654