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Machol

Showing results (41-50 of 56) with videos related to

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American Journal of Human Genetics|November 20, 2025
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxiaBrandon Bresack, Laura Renée Kohl, Alexandra Afenjar, et al.
BMC Biology|November 18, 2017
Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus)Peter A Larsen, R Alan Harris, Yue Liu, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter studyKeren Machol, Trevor D Hadley, Jake Schmidt, et al.
Nature Genetics|July 11, 2018
Genetic determinants of co-accessible chromatin regions in activated T cells across humansRachel E Gate, Christine S Cheng, Aviva P Aiden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell|May 1, 2018
The Energetics and Physiological Impact of Cohesin ExtrusionLaura Vian, Aleksandra Pękowska, Suhas S P Rao, et al.
American Journal of Human Genetics|June 8, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorderSock Hoai Chan, Audra N Iness, Jill A Rosenfeld, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|November 20, 2025
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxiaBrandon Bresack, Laura Renée Kohl, Alexandra Afenjar, et al.
BMC Biology|November 18, 2017
Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus)Peter A Larsen, R Alan Harris, Yue Liu, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter studyKeren Machol, Trevor D Hadley, Jake Schmidt, et al.
Nature Genetics|July 11, 2018
Genetic determinants of co-accessible chromatin regions in activated T cells across humansRachel E Gate, Christine S Cheng, Aviva P Aiden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell|May 1, 2018
The Energetics and Physiological Impact of Cohesin ExtrusionLaura Vian, Aleksandra Pękowska, Suhas S P Rao, et al.
American Journal of Human Genetics|June 8, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorderSock Hoai Chan, Audra N Iness, Jill A Rosenfeld, et al.
Pageof 6