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 (1021-1030 of 6,552) with videos related to

Pageof 656
Sort By:
Human Mutation|August 3, 2000
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) geneD Pirulli, S Zezlina, L Vatta, et al.
Human Mutation|August 3, 2000
A novel variant of human lysozyme (T70N) is common in the normal populationD R Booth, M B Pepys, P N Hawkins
Human Mutation|September 12, 2000
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpointsE Otto, R Betz, C Rensing, et al.
Human Mutation|September 12, 2000
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndromeD Wang, P Kranz-Eble, D C De Vivo
Human Mutation|September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)E Schollen, L Dorland, T J de Koning, et al.
Human Mutation|September 12, 2000
Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>GS R Svojanovsky, T D Schneider, P K Rogan
Human Mutation|September 12, 2000
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemiaO Jakobovitz-Picard, D Olchovsky, M Berezin, et al.
Human Mutation|September 12, 2000
MEFV mutations in Behçet's diseaseI Touitou, X Magne, N Molinari, et al.
Human Mutation|September 12, 2000
Sequence variation within the RPGR gene: evidence for a founder complex alleleI Zito, A Morris, P Tyson, et al.
Human Mutation|September 12, 2000
Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populationsH Pang, N Fujitani, M Soejima, et al.
Pageof 656

Showing results (1021-1030 of 6,552) with videos related to

Sort By:
Pageof 656
Human Mutation|August 3, 2000
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) geneD Pirulli, S Zezlina, L Vatta, et al.
Human Mutation|August 3, 2000
A novel variant of human lysozyme (T70N) is common in the normal populationD R Booth, M B Pepys, P N Hawkins
Human Mutation|September 12, 2000
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpointsE Otto, R Betz, C Rensing, et al.
Human Mutation|September 12, 2000
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndromeD Wang, P Kranz-Eble, D C De Vivo
Human Mutation|September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)E Schollen, L Dorland, T J de Koning, et al.
Human Mutation|September 12, 2000
Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>GS R Svojanovsky, T D Schneider, P K Rogan
Human Mutation|September 12, 2000
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemiaO Jakobovitz-Picard, D Olchovsky, M Berezin, et al.
Human Mutation|September 12, 2000
MEFV mutations in Behçet's diseaseI Touitou, X Magne, N Molinari, et al.
Human Mutation|September 12, 2000
Sequence variation within the RPGR gene: evidence for a founder complex alleleI Zito, A Morris, P Tyson, et al.
Human Mutation|September 12, 2000
Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populationsH Pang, N Fujitani, M Soejima, et al.
Pageof 656