Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Human mutation

Showing results (1571-1580 of 5,734) with videos related to

Pageof 574
Sort By:
Human Mutation|May 9, 2015
The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic IdentityJohan T den Dunnen
Human Mutation|May 19, 2015
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype CorrelationsJonathan H Chung, Jinlu Cai, Barrie G Suskin, et al.
Human Mutation|May 28, 2015
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinPatricia Yuste-Checa, Alejandra Gámez, Sandra Brasil, et al.
Human Mutation|April 26, 2020
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defectsJianhong Ye, Youli Tong, Jiashun Lv, et al.
Human Mutation|May 9, 2020
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditionsMarie Balzotti, Linyan Meng, Dale Muzzey, et al.
Human Mutation|May 9, 2020
TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese populationWen-Bin Zou, Yuan-Chen Wang, Xin-Lu Ren, et al.
Human Mutation|January 1, 1997
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu, S Fukuda, A Cooper, et al.
Human Mutation|January 1, 1997
Molecular basis of heat labile hexosaminidase B among Jews and ArabsG Narkis, A Adam, L Jaber, et al.
Human Mutation|January 1, 1997
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.
Human Mutation|January 1, 1997
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.
Pageof 574

Showing results (1571-1580 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|May 9, 2015
The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic IdentityJohan T den Dunnen
Human Mutation|May 19, 2015
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype CorrelationsJonathan H Chung, Jinlu Cai, Barrie G Suskin, et al.
Human Mutation|May 28, 2015
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinPatricia Yuste-Checa, Alejandra Gámez, Sandra Brasil, et al.
Human Mutation|April 26, 2020
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defectsJianhong Ye, Youli Tong, Jiashun Lv, et al.
Human Mutation|May 9, 2020
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditionsMarie Balzotti, Linyan Meng, Dale Muzzey, et al.
Human Mutation|May 9, 2020
TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese populationWen-Bin Zou, Yuan-Chen Wang, Xin-Lu Ren, et al.
Human Mutation|January 1, 1997
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu, S Fukuda, A Cooper, et al.
Human Mutation|January 1, 1997
Molecular basis of heat labile hexosaminidase B among Jews and ArabsG Narkis, A Adam, L Jaber, et al.
Human Mutation|January 1, 1997
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.
Human Mutation|January 1, 1997
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.
Pageof 574