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Yoav Zehavi

Showing results (11-20 of 19) with videos related to

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Frontiers in Pediatrics|June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental DelayZufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.
Plos One|May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyLucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
European Thyroid Journal|June 28, 2021
High Prevalence of Hearing Impairment in Primary Congenital HypothyroidismTal Almagor, Shoshana Rath, Dan Nachtigal, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Endocrine Connections|May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex developmentYardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
The Pediatric Infectious Disease Journal|October 14, 2015
Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis MediaZachi Grossman, Yoav Zehavi, Eugene Leibovitz, et al.
Clinical Genetics|July 23, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposesMorad Khayat, Nada Danial-Farran, Elena Chervinsky, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Frontiers in Pediatrics|June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental DelayZufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.
Plos One|May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyLucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
European Thyroid Journal|June 28, 2021
High Prevalence of Hearing Impairment in Primary Congenital HypothyroidismTal Almagor, Shoshana Rath, Dan Nachtigal, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Endocrine Connections|May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex developmentYardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
The Pediatric Infectious Disease Journal|October 14, 2015
Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis MediaZachi Grossman, Yoav Zehavi, Eugene Leibovitz, et al.
Clinical Genetics|July 23, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposesMorad Khayat, Nada Danial-Farran, Elena Chervinsky, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Pageof 2