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John F Harvey

Showing results (1-10 of 7) with videos related to

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Genetic Testing|July 14, 2007
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service LaboratoryRachel Howarth, Catharina Yearwood, John F Harvey
American Journal of Medical Genetics. Part A|May 3, 2013
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effectDavid J Bunyan, Kevin R Baker, John F Harvey, et al.
Clinical Chemistry|April 1, 2006
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndromeHelen E White, Victoria J Durston, John F Harvey, et al.
Genetic Testing|October 18, 2005
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencingHelen E White, Victoria J Durston, Anneke Seller, et al.
Familial Cancer|June 14, 2005
Screening for exonic copy number mutations at MSH2 and MLH1 by MAPHSeyed Mohammad Akrami, Malcolm G Dunlop, Susan M Farrington, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.
Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Genetic Testing|July 14, 2007
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service LaboratoryRachel Howarth, Catharina Yearwood, John F Harvey
American Journal of Medical Genetics. Part A|May 3, 2013
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effectDavid J Bunyan, Kevin R Baker, John F Harvey, et al.
Clinical Chemistry|April 1, 2006
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndromeHelen E White, Victoria J Durston, John F Harvey, et al.
Genetic Testing|October 18, 2005
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencingHelen E White, Victoria J Durston, Anneke Seller, et al.
Familial Cancer|June 14, 2005
Screening for exonic copy number mutations at MSH2 and MLH1 by MAPHSeyed Mohammad Akrami, Malcolm G Dunlop, Susan M Farrington, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.
Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.
Pageof 1