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Nazneen Rahman

Showing results (41-50 of 154) with videos related to

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Cancer Research|June 3, 2010
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidySaskia J E Suijkerbuijk, Maria H J van Osch, Frank L Bos, et al.
Wellcome Open Research|June 21, 2017
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS dataShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
Wellcome Open Research|May 2, 2017
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNAnna Fowler, Shazia Mahamdallie, Elise Ruark, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 19, 2009
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and gliomaMaría Berdasco, Santiago Ropero, Fernando Setien, et al.
Genome Medicine|August 29, 2015
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical settingMárton Münz, Elise Ruark, Anthony Renwick, et al.
Cancer Letters|September 27, 2005
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndromeSandra Hanks, Kim Coleman, Brenda Summersgill, et al.
Breast Cancer Research and Treatment|April 25, 2012
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancerKatie Snape, Elise Ruark, Patrick Tarpey, et al.
American Journal of Human Genetics|December 5, 2002
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypesJenny Douglas, Sandra Hanks, I Karen Temple, et al.
F1000Research|February 3, 2016
The ICR1000 UK exome series: a resource of gene variation in an outbred populationElise Ruark, Márton Münz, Anthony Renwick, et al.
Annals of Neurology|January 26, 2005
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24Meriel E McEntagart, Sarah L Reid, Alexandre Irrthum, et al.
Pageof 16

Showing results (41-50 of 154) with videos related to

Sort By:
Pageof 16
Cancer Research|June 3, 2010
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidySaskia J E Suijkerbuijk, Maria H J van Osch, Frank L Bos, et al.
Wellcome Open Research|June 21, 2017
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS dataShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
Wellcome Open Research|May 2, 2017
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNAnna Fowler, Shazia Mahamdallie, Elise Ruark, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 19, 2009
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and gliomaMaría Berdasco, Santiago Ropero, Fernando Setien, et al.
Genome Medicine|August 29, 2015
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical settingMárton Münz, Elise Ruark, Anthony Renwick, et al.
Cancer Letters|September 27, 2005
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndromeSandra Hanks, Kim Coleman, Brenda Summersgill, et al.
Breast Cancer Research and Treatment|April 25, 2012
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancerKatie Snape, Elise Ruark, Patrick Tarpey, et al.
American Journal of Human Genetics|December 5, 2002
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypesJenny Douglas, Sandra Hanks, I Karen Temple, et al.
F1000Research|February 3, 2016
The ICR1000 UK exome series: a resource of gene variation in an outbred populationElise Ruark, Márton Münz, Anthony Renwick, et al.
Annals of Neurology|January 26, 2005
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24Meriel E McEntagart, Sarah L Reid, Alexandre Irrthum, et al.
Pageof 16