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 (331-340 of 6,541) with videos related to

Pageof 655
Sort By:
Human Mutation|December 8, 2004
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patientsFransiska Malfait, Paul Coucke, Sofie Symoens, et al.
Human Mutation|June 3, 2005
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)William B Rizzo, Gael Carney
Human Mutation|May 10, 2005
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroMarie Wattenhofer, Alexandre Reymond, Véronique Falciola, et al.
Human Mutation|July 26, 2006
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patientsArvid Suls, Kristl G Claeys, Dirk Goossens, et al.
Human Mutation|September 12, 2006
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutantsAnne Durandy, Sophie Peron, Nadine Taubenheim, et al.
Human Mutation|June 27, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeKrishna Kumar Singh, Kathrin Rommel, Anjali Mishra, et al.
Human Mutation|September 15, 2006
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidaseDirk Roos, Martin de Boer, M Yavuz Köker, et al.
Human Mutation|March 8, 2006
The distribution of constitutional and somatic mutations in the neurofibromatosis 2 geneMichael E Baser,
Human Mutation|August 19, 2006
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the youngSian Ellard, Kevin Colclough
Human Mutation|August 19, 2006
Population distribution of the functional caspase-12 alleleKritika Kachapati, Thomas R O'Brien, Julie Bergeron, et al.
Pageof 655

Showing results (331-340 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|December 8, 2004
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patientsFransiska Malfait, Paul Coucke, Sofie Symoens, et al.
Human Mutation|June 3, 2005
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)William B Rizzo, Gael Carney
Human Mutation|May 10, 2005
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroMarie Wattenhofer, Alexandre Reymond, Véronique Falciola, et al.
Human Mutation|July 26, 2006
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patientsArvid Suls, Kristl G Claeys, Dirk Goossens, et al.
Human Mutation|September 12, 2006
Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutantsAnne Durandy, Sophie Peron, Nadine Taubenheim, et al.
Human Mutation|June 27, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeKrishna Kumar Singh, Kathrin Rommel, Anjali Mishra, et al.
Human Mutation|September 15, 2006
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidaseDirk Roos, Martin de Boer, M Yavuz Köker, et al.
Human Mutation|March 8, 2006
The distribution of constitutional and somatic mutations in the neurofibromatosis 2 geneMichael E Baser,
Human Mutation|August 19, 2006
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the youngSian Ellard, Kevin Colclough
Human Mutation|August 19, 2006
Population distribution of the functional caspase-12 alleleKritika Kachapati, Thomas R O'Brien, Julie Bergeron, et al.
Pageof 655