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 (241-250 of 6,541) with videos related to

Pageof 655
Sort By:
Human Mutation|September 26, 2019
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysisKaren G Scheps, Marcia A Hasenahuer, Gustavo Parisi, et al.
Human Mutation|March 1, 2021
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testingBabi R R Nallamilli, Alka Chaubey, C A Valencia, et al.
Human Mutation|April 30, 2014
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous formJulia E VanderMeer, Reymundo Lozano, Miao Sun, et al.
Human Mutation|February 8, 2017
Annotation of functional impact of voltage-gated sodium channel mutationsValérie Hinard, Aurore Britan, Mathieu Schaeffer, et al.
Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.
Human Mutation|March 2, 2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early developmentYiyun Chen, Justin Bartanus, Desheng Liang, et al.
Human Mutation|December 19, 2021
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic diseaseYang Gao, Huan Wu, Yuping Xu, et al.
Human Mutation|December 19, 2021
ROHMM-A flexible hidden Markov model framework to detect runs of homozygosity from genotyping dataGökalp Çelik, Timur Tuncalı
Human Mutation|November 8, 2021
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experienceArkadiusz Piotrowski, Magdalena Koczkowska, Andrzej B Poplawski, et al.
Human Mutation|November 8, 2021
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordanceSara Nuovo, Valentina Baglioni, Roberta De Mori, et al.
Pageof 655

Showing results (241-250 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|September 26, 2019
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysisKaren G Scheps, Marcia A Hasenahuer, Gustavo Parisi, et al.
Human Mutation|March 1, 2021
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testingBabi R R Nallamilli, Alka Chaubey, C A Valencia, et al.
Human Mutation|April 30, 2014
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous formJulia E VanderMeer, Reymundo Lozano, Miao Sun, et al.
Human Mutation|February 8, 2017
Annotation of functional impact of voltage-gated sodium channel mutationsValérie Hinard, Aurore Britan, Mathieu Schaeffer, et al.
Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.
Human Mutation|March 2, 2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early developmentYiyun Chen, Justin Bartanus, Desheng Liang, et al.
Human Mutation|December 19, 2021
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic diseaseYang Gao, Huan Wu, Yuping Xu, et al.
Human Mutation|December 19, 2021
ROHMM-A flexible hidden Markov model framework to detect runs of homozygosity from genotyping dataGökalp Çelik, Timur Tuncalı
Human Mutation|November 8, 2021
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experienceArkadiusz Piotrowski, Magdalena Koczkowska, Andrzej B Poplawski, et al.
Human Mutation|November 8, 2021
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordanceSara Nuovo, Valentina Baglioni, Roberta De Mori, et al.
Pageof 655