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Human mutation

Showing results (1651-1660 of 5,734) with videos related to

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Human Mutation|November 27, 2021
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathyKenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
Human Mutation|December 3, 2021
The enhancer rare germline variation rs548071605 contributes to lung cancer developmentXuchun Wang, He Cheng, Yin Yang, et al.
Human Mutation|September 20, 2022
Destabilization of mutated human PUS3 protein causes intellectual disabilityTing-Yu Lin, Robert Smigiel, Bozena Kuzniewska, et al.
Human Mutation|September 22, 2022
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humansGuanxiong Wang, Xiaoyu Zhu, Yang Gao, et al.
Human Mutation|September 10, 2022
Rapid genome sequencing for pediatricsJana Jezkova, Sophie Shaw, Nicola V Taverner, et al.
Human Mutation|September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disordersLaura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.
Human Mutation|December 17, 2021
Generation and mutational analysis of a transgenic mouse model of human SRYElla Thomson, Liang Zhao, Yen-Shan Chen, et al.
Human Mutation|December 9, 2021
Variant calling: Considerations, practices, and developmentsStepanka Zverinova, Victor Guryev
Human Mutation|January 11, 2022
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disabilityPan Gong, Jing Liu, Xianru Jiao, et al.
Human Mutation|December 19, 2021
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucomaEdward Ryan A Collantes, Manuel S Delfin, Baojian Fan, et al.
Pageof 574

Showing results (1651-1660 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|November 27, 2021
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathyKenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.
Human Mutation|December 3, 2021
The enhancer rare germline variation rs548071605 contributes to lung cancer developmentXuchun Wang, He Cheng, Yin Yang, et al.
Human Mutation|September 20, 2022
Destabilization of mutated human PUS3 protein causes intellectual disabilityTing-Yu Lin, Robert Smigiel, Bozena Kuzniewska, et al.
Human Mutation|September 22, 2022
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humansGuanxiong Wang, Xiaoyu Zhu, Yang Gao, et al.
Human Mutation|September 10, 2022
Rapid genome sequencing for pediatricsJana Jezkova, Sophie Shaw, Nicola V Taverner, et al.
Human Mutation|September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disordersLaura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.
Human Mutation|December 17, 2021
Generation and mutational analysis of a transgenic mouse model of human SRYElla Thomson, Liang Zhao, Yen-Shan Chen, et al.
Human Mutation|December 9, 2021
Variant calling: Considerations, practices, and developmentsStepanka Zverinova, Victor Guryev
Human Mutation|January 11, 2022
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disabilityPan Gong, Jing Liu, Xianru Jiao, et al.
Human Mutation|December 19, 2021
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucomaEdward Ryan A Collantes, Manuel S Delfin, Baojian Fan, et al.
Pageof 574