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 (1691-1700 of 5,734) with videos related to

Pageof 574
Sort By:
Human Mutation|December 17, 2014
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKristien Peeters, Sven Bervoets, Teodora Chamova, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
Human Mutation|January 21, 2016
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth DiseaseYoung Bin Hong, Junghee Kang, Ji Hyun Kim, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Human Mutation|August 30, 2014
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genesElizabeth K Flynn, Aparna Kamat, Francis P Lach, et al.
Human Mutation|September 18, 2015
Mitigating false-positive associations in rare disease gene discoverySebastian Akle, Sung Chun, Daniel M Jordan, et al.
Human Mutation|November 11, 2015
Correction of a Cystic Fibrosis Splicing Mutation by Antisense OligonucleotidesSusana Igreja, Luka A Clarke, Hugo M Botelho, et al.
Pageof 574

Showing results (1691-1700 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|December 17, 2014
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKristien Peeters, Sven Bervoets, Teodora Chamova, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
Human Mutation|January 21, 2016
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth DiseaseYoung Bin Hong, Junghee Kang, Ji Hyun Kim, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Human Mutation|August 30, 2014
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genesElizabeth K Flynn, Aparna Kamat, Francis P Lach, et al.
Human Mutation|September 18, 2015
Mitigating false-positive associations in rare disease gene discoverySebastian Akle, Sung Chun, Daniel M Jordan, et al.
Human Mutation|November 11, 2015
Correction of a Cystic Fibrosis Splicing Mutation by Antisense OligonucleotidesSusana Igreja, Luka A Clarke, Hugo M Botelho, et al.
Pageof 574