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David N Cooper

Showing results (221-230 of 398) with videos related to

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Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Journal of Medical Case Reports|December 14, 2011
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reportsJulia Vogt, Rosa Nguyen, Lan Kluwe, et al.
Human Mutation|February 15, 2012
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesisMeena Upadhyaya, Gill Spurlock, Laura Thomas, et al.
Human Mutation|March 17, 2004
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanismsMarie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, et al.
Bioinformatics (Oxford, England)|January 14, 2015
An integrative approach to predicting the functional effects of non-coding and coding sequence variationHashem A Shihab, Mark F Rogers, Julian Gough, et al.
Human Genomics|September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) geneDavid S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
Personalized Medicine|May 26, 2018
A critical view of the general public's awareness and physicians' opinion of the trends and potential pitfalls of genetic testing in GreeceYuan Mai, Theodora Koromila, Aggeliki Sagia, et al.
Human Molecular Genetics|July 9, 2009
Elucidation of the complex structure and origin of the human trypsinogen locus triplicationAngélique Chauvin, Jian-Min Chen, Sylvia Quemener, et al.
Plos Computational Biology|June 15, 2019
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genomeKymberleigh A Pagel, Danny Antaki, AoJie Lian, et al.
Pageof 40

Showing results (221-230 of 398) with videos related to

Sort By:
Pageof 40
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Journal of Medical Case Reports|December 14, 2011
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reportsJulia Vogt, Rosa Nguyen, Lan Kluwe, et al.
Human Mutation|February 15, 2012
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesisMeena Upadhyaya, Gill Spurlock, Laura Thomas, et al.
Human Mutation|March 17, 2004
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanismsMarie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, et al.
Bioinformatics (Oxford, England)|January 14, 2015
An integrative approach to predicting the functional effects of non-coding and coding sequence variationHashem A Shihab, Mark F Rogers, Julian Gough, et al.
Human Genomics|September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) geneDavid S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
Personalized Medicine|May 26, 2018
A critical view of the general public's awareness and physicians' opinion of the trends and potential pitfalls of genetic testing in GreeceYuan Mai, Theodora Koromila, Aggeliki Sagia, et al.
Human Molecular Genetics|July 9, 2009
Elucidation of the complex structure and origin of the human trypsinogen locus triplicationAngélique Chauvin, Jian-Min Chen, Sylvia Quemener, et al.
Plos Computational Biology|June 15, 2019
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genomeKymberleigh A Pagel, Danny Antaki, AoJie Lian, et al.
Pageof 40