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 (81-90 of 6,539) with videos related to

Pageof 654
Sort By:
Human Mutation|January 1, 1994
Rapid and noninvasive screening of patients with mitochondrial myopathyN Kotsimbos, M J Jean-Francois, M Huizing, et al.
Human Mutation|January 1, 1994
Discussion on mutation nomenclatureS E Antonarakis, V A McKusick
Human Mutation|January 1, 1994
Detection of point mutations by solid-phase methodsA C Syvänen, U Landegren
Human Mutation|January 1, 1994
Mutations in PAX3 associated with Waardenburg syndrome type IC T Baldwin, N R Lipsky, C F Hoth, et al.
Human Mutation|January 1, 1994
Allele frequency data for VNTR locus D17S79: identification of an internal HaeIII polymorphism in the black populationJ S Waye, M Richard, G Carmody, et al.
Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.
Human Mutation|January 1, 1994
A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrierA Meloni, M Demurtas, L Moi, et al.
Human Mutation|February 28, 2022
An algorithm for optimal testing in co-segregation analysisRonald W Buie, John Michael O Rañola, Annie T Chen, et al.
Human Mutation|May 12, 2018
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancerDaniel R Evans, Srividya Venkitachalam, Leslie Revoredo, et al.
Human Mutation|December 24, 2002
eMelanoBase: an online locus-specific variant database for familial melanomaDavid C Y Fung, Elizabeth A Holland, Therese M Becker, et al.
Pageof 654

Showing results (81-90 of 6,539) with videos related to

Sort By:
Pageof 654
Human Mutation|January 1, 1994
Rapid and noninvasive screening of patients with mitochondrial myopathyN Kotsimbos, M J Jean-Francois, M Huizing, et al.
Human Mutation|January 1, 1994
Discussion on mutation nomenclatureS E Antonarakis, V A McKusick
Human Mutation|January 1, 1994
Detection of point mutations by solid-phase methodsA C Syvänen, U Landegren
Human Mutation|January 1, 1994
Mutations in PAX3 associated with Waardenburg syndrome type IC T Baldwin, N R Lipsky, C F Hoth, et al.
Human Mutation|January 1, 1994
Allele frequency data for VNTR locus D17S79: identification of an internal HaeIII polymorphism in the black populationJ S Waye, M Richard, G Carmody, et al.
Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.
Human Mutation|January 1, 1994
A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrierA Meloni, M Demurtas, L Moi, et al.
Human Mutation|February 28, 2022
An algorithm for optimal testing in co-segregation analysisRonald W Buie, John Michael O Rañola, Annie T Chen, et al.
Human Mutation|May 12, 2018
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancerDaniel R Evans, Srividya Venkitachalam, Leslie Revoredo, et al.
Human Mutation|December 24, 2002
eMelanoBase: an online locus-specific variant database for familial melanomaDavid C Y Fung, Elizabeth A Holland, Therese M Becker, et al.
Pageof 654