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 (1601-1610 of 5,734) with videos related to

Pageof 574
Sort By:
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
Human Mutation|December 26, 2003
Pyrosequencing-based SNP allele frequency estimation in DNA poolsCatharina Lavebratt, Selim Sengul, Marten Jansson, et al.
Human Mutation|December 26, 2003
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiencyFlora Peyvandi, Liliana Tagliabue, Marzia Menegatti, et al.
Human Mutation|December 26, 2003
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathyAndrew Biggin, Katherine Holman, Maggie Brett, et al.
Human Mutation|December 26, 2003
Large deletions in the polycystic kidney disease 1 (PKD1) geneYavuz Ariyurek, Irma Lantinga-van Leeuwen, Lia Spruit, et al.
Human Mutation|December 26, 2003
Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese populationHiromi Fukushima-Uesaka, Yoshiro Saito, Hidemi Watanabe, et al.
Human Mutation|January 15, 2004
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 geneLan Kluwe, Reiner Siebert, Stefan Gesk, et al.
Human Mutation|January 15, 2004
Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within lociB Myhre Dupuy, M Stenersen, T Egeland, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Pageof 574

Showing results (1601-1610 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
Human Mutation|December 26, 2003
Pyrosequencing-based SNP allele frequency estimation in DNA poolsCatharina Lavebratt, Selim Sengul, Marten Jansson, et al.
Human Mutation|December 26, 2003
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiencyFlora Peyvandi, Liliana Tagliabue, Marzia Menegatti, et al.
Human Mutation|December 26, 2003
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathyAndrew Biggin, Katherine Holman, Maggie Brett, et al.
Human Mutation|December 26, 2003
Large deletions in the polycystic kidney disease 1 (PKD1) geneYavuz Ariyurek, Irma Lantinga-van Leeuwen, Lia Spruit, et al.
Human Mutation|December 26, 2003
Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese populationHiromi Fukushima-Uesaka, Yoshiro Saito, Hidemi Watanabe, et al.
Human Mutation|January 15, 2004
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 geneLan Kluwe, Reiner Siebert, Stefan Gesk, et al.
Human Mutation|January 15, 2004
Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within lociB Myhre Dupuy, M Stenersen, T Egeland, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Pageof 574