Human mutation - JoVE Visualize

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Human Mutation|August 19, 2014

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.

Human Mutation|August 20, 2014

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseAmelia Morrone, Anna Caciotti, Robert Atwood, et al.

Human Mutation|October 30, 2013

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) geneCécile Balmer, Amit V Pandey, Véronique Rüfenacht, et al.

Human Mutation|November 28, 2013

Targeted knock-in of the polymorphism rs61764370 does not affect KRAS expression but reduces let-7 levelsEmily Hannah Crowley, Sabrina Arena, Simona Lamba, et al.

Human Mutation|December 11, 2013

Functional assays for analysis of variants of uncertain significance in BRCA2Lucia Guidugli, Aura Carreira, Sandrine M Caputo, et al.

Human Mutation|October 18, 2014

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulationDiana Zahnleiter, Nadine N Hauer, Kristin Kessler, et al.

Human Mutation|November 8, 2014

Functional characterization and classification of frequent low-density lipoprotein receptor variantsAitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, et al.

Human Mutation|April 6, 2026

SELL Marks an Effector-Deficient CD8+ T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin TherapyYan Huang, Haochen Xu, Congxia Bai, et al.

Human Mutation|April 3, 2026

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi PopulationNancy S Younis, Rahma M Alkabsh, Shahad M Nasser Alqahtani, et al.

Human Mutation|April 13, 2026

Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung AdenocarcinomaLan Ding, Qingmei Xu, Dongdong Liu, et al.

Pageof 575

Showing results (2571-2580 of 5,747) with videos related to

Sort By:

Pageof 575

Human Mutation|August 19, 2014

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.

Human Mutation|August 20, 2014

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseAmelia Morrone, Anna Caciotti, Robert Atwood, et al.

Human Mutation|October 30, 2013

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) geneCécile Balmer, Amit V Pandey, Véronique Rüfenacht, et al.

Human Mutation|November 28, 2013

Targeted knock-in of the polymorphism rs61764370 does not affect KRAS expression but reduces let-7 levelsEmily Hannah Crowley, Sabrina Arena, Simona Lamba, et al.

Human Mutation|December 11, 2013

Functional assays for analysis of variants of uncertain significance in BRCA2Lucia Guidugli, Aura Carreira, Sandrine M Caputo, et al.

Human Mutation|October 18, 2014

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulationDiana Zahnleiter, Nadine N Hauer, Kristin Kessler, et al.

Human Mutation|November 8, 2014

Functional characterization and classification of frequent low-density lipoprotein receptor variantsAitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, et al.

Human Mutation|April 6, 2026

SELL Marks an Effector-Deficient CD8+ T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin TherapyYan Huang, Haochen Xu, Congxia Bai, et al.

Human Mutation|April 3, 2026

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi PopulationNancy S Younis, Rahma M Alkabsh, Shahad M Nasser Alqahtani, et al.

Human Mutation|April 13, 2026

Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung AdenocarcinomaLan Ding, Qingmei Xu, Dongdong Liu, et al.

Pageof 575