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

Ben Pode-Shakked

Showing results (51-60 of 85) with videos related to

Pageof 9
Sort By:
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
European Journal of Human Genetics : EJHG|February 18, 2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutationsJoshi Stephen, Thierry Vilboux, Yael Haberman, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
Pediatric Rheumatology Online Journal|August 1, 2019
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologiesIrit Tirosh, Shiri Spielman, Ortal Barel, et al.
Cancer Research|December 22, 2018
Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in CancerAlon Silberman, Omer Goldman, Odeya Boukobza Assayag, et al.
International Journal of Molecular Sciences|November 5, 2020
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing EnteropathyJorik M van Rijn, Lael Werner, Yusuf Aydemir, et al.
NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2019
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal HyperplasiaNaomi Pode-Shakked, Ayala Blau, Ben Pode-Shakked, et al.
Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
European Journal of Human Genetics : EJHG|February 18, 2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutationsJoshi Stephen, Thierry Vilboux, Yael Haberman, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
Pediatric Rheumatology Online Journal|August 1, 2019
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologiesIrit Tirosh, Shiri Spielman, Ortal Barel, et al.
Cancer Research|December 22, 2018
Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in CancerAlon Silberman, Omer Goldman, Odeya Boukobza Assayag, et al.
International Journal of Molecular Sciences|November 5, 2020
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing EnteropathyJorik M van Rijn, Lael Werner, Yusuf Aydemir, et al.
NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2019
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal HyperplasiaNaomi Pode-Shakked, Ayala Blau, Ben Pode-Shakked, et al.
Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Pageof 9