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

Tamar Paperna

Showing results (41-50 of 47) with videos related to

Pageof 5
Sort By:
You have reached the last page of results.This site can display upto 47 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Molecular Genetics and Metabolism|March 22, 2026
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicityAndré B P van Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney DiseaseOmer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Molecular Genetics and Metabolism|March 22, 2026
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicityAndré B P van Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney DiseaseOmer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
Pageof 5