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Human mutation

Showing results (921-930 of 6,545) with videos related to

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Human Mutation|February 20, 2004
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndromeHelen E MacLean, Emma M A Ball, Georgia Rekaris, et al.
Human Mutation|June 29, 2004
Functional analysis of polymorphisms in the promoter regions of genes on 22q11Bastiaan Hoogendoorn, Sharon L Coleman, Carol A Guy, et al.
Human Mutation|June 29, 2004
Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumorsReyna Favis, Jianmin Huang, Norman P Gerry, et al.
Human Mutation|June 29, 2004
RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysisNigel Wood, Adrian Fraser, Jeffrey Bidwell, et al.
Human Mutation|June 29, 2004
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European familiesJörg Fiedler, Martine Le Merrer, Geert Mortier, et al.
Human Mutation|April 27, 2004
PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysisQiang Liu, Steve S Sommer
Human Mutation|April 27, 2004
Single-molecule analysis for molecular haplotypingPui-Yan Kwok, Ming Xiao
Human Mutation|April 27, 2004
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosisAlfredo Ramírez, Julia Faupel, Ingrid Goebel, et al.
Human Mutation|April 27, 2004
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosisChristina Vrettou, Joanne Traeger-Synodinos, Maria Tzetis, et al.
Human Mutation|April 27, 2004
Characterization of seven novel mutations in seven patients with GAMT deficiencyC B Item, S Mercimek-Mahmutoglu, R Battini, et al.
Pageof 655

Showing results (921-930 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|February 20, 2004
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndromeHelen E MacLean, Emma M A Ball, Georgia Rekaris, et al.
Human Mutation|June 29, 2004
Functional analysis of polymorphisms in the promoter regions of genes on 22q11Bastiaan Hoogendoorn, Sharon L Coleman, Carol A Guy, et al.
Human Mutation|June 29, 2004
Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumorsReyna Favis, Jianmin Huang, Norman P Gerry, et al.
Human Mutation|June 29, 2004
RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysisNigel Wood, Adrian Fraser, Jeffrey Bidwell, et al.
Human Mutation|June 29, 2004
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European familiesJörg Fiedler, Martine Le Merrer, Geert Mortier, et al.
Human Mutation|April 27, 2004
PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysisQiang Liu, Steve S Sommer
Human Mutation|April 27, 2004
Single-molecule analysis for molecular haplotypingPui-Yan Kwok, Ming Xiao
Human Mutation|April 27, 2004
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosisAlfredo Ramírez, Julia Faupel, Ingrid Goebel, et al.
Human Mutation|April 27, 2004
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosisChristina Vrettou, Joanne Traeger-Synodinos, Maria Tzetis, et al.
Human Mutation|April 27, 2004
Characterization of seven novel mutations in seven patients with GAMT deficiencyC B Item, S Mercimek-Mahmutoglu, R Battini, et al.
Pageof 655