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Peter N Ray

Showing results (41-50 of 62) with videos related to

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Molecular Genetics & Genomic Medicine|January 24, 2015
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanismsBerivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, et al.
Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Human Molecular Genetics|October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophyGraeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesCheryl Shuman, Adam C Smith, Leslie Steele, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|April 26, 2011
A population-based study of dystrophin mutations in CanadaJean K Mah, Kathryn Selby, Craig Campbell, et al.
Thorax|October 24, 2013
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?Chee Y Ooi, Annie Dupuis, Lynda Ellis, et al.
G3 (Bethesda, Md.)|July 4, 2015
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary DyskinesiaChristian R Marshall, Stephen W Scherer, Maimoona A Zariwala, et al.
NPJ Genomic Medicine|December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort studyIris Cohn, Tara A Paton, Christian R Marshall, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Molecular Genetics & Genomic Medicine|January 24, 2015
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanismsBerivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, et al.
Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Human Molecular Genetics|October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophyGraeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesCheryl Shuman, Adam C Smith, Leslie Steele, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|April 26, 2011
A population-based study of dystrophin mutations in CanadaJean K Mah, Kathryn Selby, Craig Campbell, et al.
Thorax|October 24, 2013
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?Chee Y Ooi, Annie Dupuis, Lynda Ellis, et al.
G3 (Bethesda, Md.)|July 4, 2015
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary DyskinesiaChristian R Marshall, Stephen W Scherer, Maimoona A Zariwala, et al.
NPJ Genomic Medicine|December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort studyIris Cohn, Tara A Paton, Christian R Marshall, et al.
Pageof 7