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Human mutation

Showing results (1031-1040 of 6,552) with videos related to

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Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.
Human Mutation|September 12, 2000
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosaR Gardella, S Barlati, N Zoppi, et al.
Human Mutation|April 11, 2001
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identificationF Ye, M S Li, J D Taylor, et al.
Human Mutation|April 11, 2001
Identification of novel WFS1 mutations in Italian children with Wolfram syndromeA Tessa, I Carbone, M C Matteoli, et al.
Human Mutation|April 11, 2001
Human GABA(B) receptor 1 gene: eight novel sequence variantsF M Hisama, J R Gruen, J Choi, et al.
Human Mutation|April 11, 2001
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12M Linnebank, A Homberger, J P Kraus, et al.
Human Mutation|April 11, 2001
Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 geneI Marcos, A Ruiz, S Borrego, et al.
Human Mutation|April 11, 2001
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296XJ Genschel, H P Thomas, U Kassner, et al.
Human Mutation|April 11, 2001
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) geneD Feldmann, F Laroze, C Troadec, et al.
Human Mutation|April 11, 2001
A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese familyY R Shi, J Y Wu, F J Tsai, et al.
Pageof 656

Showing results (1031-1040 of 6,552) with videos related to

Sort By:
Pageof 656
Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.
Human Mutation|September 12, 2000
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosaR Gardella, S Barlati, N Zoppi, et al.
Human Mutation|April 11, 2001
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identificationF Ye, M S Li, J D Taylor, et al.
Human Mutation|April 11, 2001
Identification of novel WFS1 mutations in Italian children with Wolfram syndromeA Tessa, I Carbone, M C Matteoli, et al.
Human Mutation|April 11, 2001
Human GABA(B) receptor 1 gene: eight novel sequence variantsF M Hisama, J R Gruen, J Choi, et al.
Human Mutation|April 11, 2001
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12M Linnebank, A Homberger, J P Kraus, et al.
Human Mutation|April 11, 2001
Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 geneI Marcos, A Ruiz, S Borrego, et al.
Human Mutation|April 11, 2001
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296XJ Genschel, H P Thomas, U Kassner, et al.
Human Mutation|April 11, 2001
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) geneD Feldmann, F Laroze, C Troadec, et al.
Human Mutation|April 11, 2001
A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese familyY R Shi, J Y Wu, F J Tsai, et al.
Pageof 656