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 (1481-1490 of 5,734) with videos related to

Pageof 574
Sort By:
Human Mutation|April 29, 1998
A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiencyK Abo, H Nishio, M J Lee, et al.
Human Mutation|July 21, 2016
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift, Arjen R Mensenkamp, Mark Drost, et al.
Human Mutation|July 27, 2016
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing VariationsLouise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.
Human Mutation|April 28, 2015
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT SyndromeMarika L Osterbur, Renjian Zheng, Robert Marion, et al.
Human Mutation|April 28, 2015
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM GeneGisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al.
Human Mutation|April 1, 1998
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.
Human Mutation|April 1, 1998
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemiaP Bosco, F Cali, C Meli, et al.
Human Mutation|January 1, 1993
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplexM M Humphries, D M Sheils, G J Farrar, et al.
Human Mutation|April 6, 2021
Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and featuresYu Lu, Yiming Wu, Yuan Liu, et al.
Human Mutation|July 29, 2016
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.
Pageof 574

Showing results (1481-1490 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 29, 1998
A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiencyK Abo, H Nishio, M J Lee, et al.
Human Mutation|July 21, 2016
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift, Arjen R Mensenkamp, Mark Drost, et al.
Human Mutation|July 27, 2016
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing VariationsLouise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.
Human Mutation|April 28, 2015
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT SyndromeMarika L Osterbur, Renjian Zheng, Robert Marion, et al.
Human Mutation|April 28, 2015
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM GeneGisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al.
Human Mutation|April 1, 1998
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.
Human Mutation|April 1, 1998
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemiaP Bosco, F Cali, C Meli, et al.
Human Mutation|January 1, 1993
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplexM M Humphries, D M Sheils, G J Farrar, et al.
Human Mutation|April 6, 2021
Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and featuresYu Lu, Yiming Wu, Yuan Liu, et al.
Human Mutation|July 29, 2016
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.
Pageof 574