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Human mutation

Showing results (721-730 of 6,544) with videos related to

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Human Mutation|March 31, 2012
11q13 is a susceptibility locus for hormone receptor positive breast cancerDiether Lambrechts, Therese Truong, Christina Justenhoven, et al.
Human Mutation|March 31, 2012
Systematic analysis and functional annotation of variations in the genome of an Indian individualAshok Patowary, Ramya Purkanti, Meghna Singh, et al.
Human Mutation|March 31, 2012
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase geneManshu Tang, Angelo Facchiano, Rakesh Rachamadugu, et al.
Human Mutation|November 30, 2011
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disabilityCéline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, et al.
Human Mutation|November 30, 2011
Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous diseaseBernadette Boog, Alex Quach, Maurizio Costabile, et al.
Human Mutation|November 22, 2011
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variantsMark Drost, José B M Zonneveld, Sandrine van Hees, et al.
Human Mutation|April 28, 2012
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndromeJorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, et al.
Human Mutation|May 15, 2012
Locus-specific mutation databases for neurodegenerative brain diseasesMarc Cruts, Jessie Theuns, Christine Van Broeckhoven
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Human Mutation|May 11, 2012
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial diseaseMiyuki Tsumura, Satoshi Okada, Hidemasa Sakai, et al.
Pageof 655

Showing results (721-730 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|March 31, 2012
11q13 is a susceptibility locus for hormone receptor positive breast cancerDiether Lambrechts, Therese Truong, Christina Justenhoven, et al.
Human Mutation|March 31, 2012
Systematic analysis and functional annotation of variations in the genome of an Indian individualAshok Patowary, Ramya Purkanti, Meghna Singh, et al.
Human Mutation|March 31, 2012
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase geneManshu Tang, Angelo Facchiano, Rakesh Rachamadugu, et al.
Human Mutation|November 30, 2011
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disabilityCéline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, et al.
Human Mutation|November 30, 2011
Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous diseaseBernadette Boog, Alex Quach, Maurizio Costabile, et al.
Human Mutation|November 22, 2011
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variantsMark Drost, José B M Zonneveld, Sandrine van Hees, et al.
Human Mutation|April 28, 2012
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndromeJorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, et al.
Human Mutation|May 15, 2012
Locus-specific mutation databases for neurodegenerative brain diseasesMarc Cruts, Jessie Theuns, Christine Van Broeckhoven
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Human Mutation|May 11, 2012
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial diseaseMiyuki Tsumura, Satoshi Okada, Hidemasa Sakai, et al.
Pageof 655