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 (531-540 of 6,543) with videos related to

Pageof 655
Sort By:
Human Mutation|January 1, 1995
Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->TM L Kimberland, C D Boehm, H H Kazazian
Human Mutation|January 1, 1993
A rapid and reliable PCR method for genotyping the ABO blood groupD S O'Keefe, A Dobrovic
Human Mutation|January 1, 1993
G6PD "campinas:" a deficient enzyme with a mutation at the far 3' end of the geneL Baronciani, F Tricta, E Beutler
Human Mutation|January 1, 1993
A molecular approach to estimating the human deleterious mutation rateA S Kondrashov, J F Crow
Human Mutation|January 1, 1993
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase geneC B Whitley, R A Anderson, E L Aronovich, et al.
Human Mutation|January 1, 1995
Mutations in the Norrie disease geneD E Schuback, Z Y Chen, I W Craig, et al.
Human Mutation|January 1, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendumM Tuchman, R J Plante
Human Mutation|January 1, 1995
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemiaT L Hagemann, F S Rosen, S P Kwan
Human Mutation|January 1, 1995
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Cuba Neuropathy Field Investigation TeamA Torroni, M D Brown, M T Lott, et al.
Human Mutation|January 1, 1995
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficienciesR Burgemeister, E Rötzer, W Gutensohn, et al.
Pageof 655

Showing results (531-540 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1995
Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->TM L Kimberland, C D Boehm, H H Kazazian
Human Mutation|January 1, 1993
A rapid and reliable PCR method for genotyping the ABO blood groupD S O'Keefe, A Dobrovic
Human Mutation|January 1, 1993
G6PD "campinas:" a deficient enzyme with a mutation at the far 3' end of the geneL Baronciani, F Tricta, E Beutler
Human Mutation|January 1, 1993
A molecular approach to estimating the human deleterious mutation rateA S Kondrashov, J F Crow
Human Mutation|January 1, 1993
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase geneC B Whitley, R A Anderson, E L Aronovich, et al.
Human Mutation|January 1, 1995
Mutations in the Norrie disease geneD E Schuback, Z Y Chen, I W Craig, et al.
Human Mutation|January 1, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendumM Tuchman, R J Plante
Human Mutation|January 1, 1995
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemiaT L Hagemann, F S Rosen, S P Kwan
Human Mutation|January 1, 1995
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Cuba Neuropathy Field Investigation TeamA Torroni, M D Brown, M T Lott, et al.
Human Mutation|January 1, 1995
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficienciesR Burgemeister, E Rötzer, W Gutensohn, et al.
Pageof 655