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Human mutation

Showing results (701-710 of 6,544) with videos related to

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Human Mutation|October 1, 2009
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemiaKara K Osbak, Kevin Colclough, Cecile Saint-Martin, et al.
Human Mutation|June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
Human Mutation|October 6, 2009
Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathwaysKarin Leunen, Olivier Gevaert, Anneleen Daemen, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Human Mutation|December 9, 2010
Defining the pathogenicity of creatine deficiency syndromePatricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
Human Mutation|July 28, 2011
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2Bertrand Isidor, Martine Le Merrer, G Ulrich Exner, et al.
Human Mutation|July 23, 2011
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defectsJulie Demars, Sylvie Rossignol, Irène Netchine, et al.
Human Mutation|March 28, 2007
Pathogenic mutations in Parkinson diseaseEng-King Tan, Lisa M Skipper
Human Mutation|March 16, 2007
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variationJustin Graf, Joanne Voisey, Ian Hughes, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Pageof 655

Showing results (701-710 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|October 1, 2009
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemiaKara K Osbak, Kevin Colclough, Cecile Saint-Martin, et al.
Human Mutation|June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
Human Mutation|October 6, 2009
Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathwaysKarin Leunen, Olivier Gevaert, Anneleen Daemen, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Human Mutation|December 9, 2010
Defining the pathogenicity of creatine deficiency syndromePatricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
Human Mutation|July 28, 2011
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2Bertrand Isidor, Martine Le Merrer, G Ulrich Exner, et al.
Human Mutation|July 23, 2011
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defectsJulie Demars, Sylvie Rossignol, Irène Netchine, et al.
Human Mutation|March 28, 2007
Pathogenic mutations in Parkinson diseaseEng-King Tan, Lisa M Skipper
Human Mutation|March 16, 2007
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variationJustin Graf, Joanne Voisey, Ian Hughes, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Pageof 655