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Michal Inbar-Feigenberg

Showing results (11-20 of 47) with videos related to

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Molecular Genetics and Metabolism Reports|October 26, 2020
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <i>PEX3</i> defect: Case report and literature reviewWhiwon Lee, Gregory Costain, Susan Blaser, et al.
Molecular Genetics and Metabolism Reports|January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type BFady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issuesMichal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, et al.
Metabolic Brain Disease|November 25, 2016
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsyAmal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, et al.
Pediatric Transplantation|April 24, 2020
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature reviewLucy Soudek, Iram Siddiqui, Andrea Guerin, et al.
Journal of Pediatric Genetics|August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, et al.
Journal of Inherited Metabolic Disease|February 23, 2026
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn ScreeningAnna T Reischl-Hajiabadi, Laura Guilder, Michal Inbar-Feigenberg, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|March 31, 2023
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health researchShelley Vanderhout, Beth K Potter, Maureen Smith, et al.
Journal of Medical Genetics|February 23, 2023
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism Reports|October 26, 2020
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <i>PEX3</i> defect: Case report and literature reviewWhiwon Lee, Gregory Costain, Susan Blaser, et al.
Molecular Genetics and Metabolism Reports|January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type BFady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issuesMichal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, et al.
Metabolic Brain Disease|November 25, 2016
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsyAmal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, et al.
Pediatric Transplantation|April 24, 2020
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature reviewLucy Soudek, Iram Siddiqui, Andrea Guerin, et al.
Journal of Pediatric Genetics|August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, et al.
Journal of Inherited Metabolic Disease|February 23, 2026
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn ScreeningAnna T Reischl-Hajiabadi, Laura Guilder, Michal Inbar-Feigenberg, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|March 31, 2023
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health researchShelley Vanderhout, Beth K Potter, Maureen Smith, et al.
Journal of Medical Genetics|February 23, 2023
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, et al.
Pageof 5