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David N Cooper

Showing results (91-100 of 398) with videos related to

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Plos One|August 17, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsEmmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, et al.
Human Genetics|July 4, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseDavid N Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Mutation|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, et al.
The Journal of Investigative Dermatology|August 25, 2005
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1Claudia Consoli, Celia Moss, Stuart Green, et al.
Human Mutation|June 25, 2005
Complex gene rearrangements caused by serial replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genetics|June 16, 2006
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apesJustyna M Szamalek, Violaine Goidts, David N Cooper, et al.
Frontiers in Pharmacology|August 21, 2019
Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine InterventionsStavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, et al.
Human Genomics|July 10, 2013
Genetic tests obtainable through pharmacies: the good, the bad, and the uglyGeorge P Patrinos, Darrol J Baker, Fahd Al-Mulla, et al.
American Journal of Human Genetics|September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanismEmmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
Seminars in Cancer Biology|June 15, 2010
Genomic rearrangements in inherited disease and cancerJian-Min Chen, David N Cooper, Claude Férec, et al.
Pageof 40

Showing results (91-100 of 398) with videos related to

Sort By:
Pageof 40
Plos One|August 17, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsEmmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, et al.
Human Genetics|July 4, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseDavid N Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Mutation|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, et al.
The Journal of Investigative Dermatology|August 25, 2005
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1Claudia Consoli, Celia Moss, Stuart Green, et al.
Human Mutation|June 25, 2005
Complex gene rearrangements caused by serial replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genetics|June 16, 2006
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apesJustyna M Szamalek, Violaine Goidts, David N Cooper, et al.
Frontiers in Pharmacology|August 21, 2019
Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine InterventionsStavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, et al.
Human Genomics|July 10, 2013
Genetic tests obtainable through pharmacies: the good, the bad, and the uglyGeorge P Patrinos, Darrol J Baker, Fahd Al-Mulla, et al.
American Journal of Human Genetics|September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanismEmmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
Seminars in Cancer Biology|June 15, 2010
Genomic rearrangements in inherited disease and cancerJian-Min Chen, David N Cooper, Claude Férec, et al.
Pageof 40