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Howard R Slater

Showing results (21-30 of 43) with videos related to

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Molecular Genetics and Metabolism|December 29, 2009
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)David Coman, Joy Yaplito-Lee, Phung La, et al.
Human Mutation|April 16, 2005
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpointsHua Ren, Wendy Francis, Amber Boys, et al.
The Journal of Molecular Diagnostics : JMD|July 5, 2011
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 allelesDavid E Godler, Howard R Slater, Quang M Bui, et al.
Clinical Chemistry|May 9, 2009
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, et al.
American Journal of Medical Genetics. Part A|November 16, 2006
High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidyDamien L Bruno, Trent Burgess, Hua Ren, et al.
Clinical Chemistry|June 6, 2014
Use of copy number deletion polymorphisms to assess DNA chimerismDamien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, et al.
Human Molecular Genetics|January 12, 2013
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.
Clinical Chemistry|January 12, 2012
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot studyDavid E Godler, Howard R Slater, Quang M Bui, et al.
Clinical Chemistry|December 31, 2015
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt AnalysisSolange M Aliaga, Howard R Slater, David Francis, et al.
Human Mutation|August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarraysDamien L Bruno, Zornitza Stark, David J Amor, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|December 29, 2009
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)David Coman, Joy Yaplito-Lee, Phung La, et al.
Human Mutation|April 16, 2005
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpointsHua Ren, Wendy Francis, Amber Boys, et al.
The Journal of Molecular Diagnostics : JMD|July 5, 2011
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 allelesDavid E Godler, Howard R Slater, Quang M Bui, et al.
Clinical Chemistry|May 9, 2009
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, et al.
American Journal of Medical Genetics. Part A|November 16, 2006
High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidyDamien L Bruno, Trent Burgess, Hua Ren, et al.
Clinical Chemistry|June 6, 2014
Use of copy number deletion polymorphisms to assess DNA chimerismDamien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, et al.
Human Molecular Genetics|January 12, 2013
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.
Clinical Chemistry|January 12, 2012
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot studyDavid E Godler, Howard R Slater, Quang M Bui, et al.
Clinical Chemistry|December 31, 2015
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt AnalysisSolange M Aliaga, Howard R Slater, David Francis, et al.
Human Mutation|August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarraysDamien L Bruno, Zornitza Stark, David J Amor, et al.
Pageof 5