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 (941-950 of 6,550) with videos related to

Pageof 655
Sort By:
Human Mutation|June 14, 2012
ABCMdb: a database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general applicationGergely Gyimesi, Dávid Borsodi, Hajnalka Sarankó, et al.
Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.
Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.
Human Mutation|November 20, 2012
Functional characterization of novel mutations affecting survivin (BIRC5)-mediated therapy resistance in head and neck cancer patientsShirley K Knauer, Britta Unruhe, Sarah Karczewski, et al.
Human Mutation|November 22, 2012
Guidelines for reporting and using prediction tools for genetic variation analysisMauno Vihinen
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Human Mutation|May 11, 2012
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBChristelle Borel, Eugenia Migliavacca, Audrey Letourneau, et al.
Human Mutation|August 16, 2013
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneJonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, et al.
Human Mutation|August 20, 2013
Best practices for evaluating mutation prediction methodsPeter K Rogan, Guang Yong Zou
Human Mutation|March 12, 2011
WAVe: web analysis of the variomePedro Lopes, Raymond Dalgleish, José Luís Oliveira
Pageof 655

Showing results (941-950 of 6,550) with videos related to

Sort By:
Pageof 655
Human Mutation|June 14, 2012
ABCMdb: a database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general applicationGergely Gyimesi, Dávid Borsodi, Hajnalka Sarankó, et al.
Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.
Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.
Human Mutation|November 20, 2012
Functional characterization of novel mutations affecting survivin (BIRC5)-mediated therapy resistance in head and neck cancer patientsShirley K Knauer, Britta Unruhe, Sarah Karczewski, et al.
Human Mutation|November 22, 2012
Guidelines for reporting and using prediction tools for genetic variation analysisMauno Vihinen
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Human Mutation|May 11, 2012
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBChristelle Borel, Eugenia Migliavacca, Audrey Letourneau, et al.
Human Mutation|August 16, 2013
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneJonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, et al.
Human Mutation|August 20, 2013
Best practices for evaluating mutation prediction methodsPeter K Rogan, Guang Yong Zou
Human Mutation|March 12, 2011
WAVe: web analysis of the variomePedro Lopes, Raymond Dalgleish, José Luís Oliveira
Pageof 655