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Orna Staretz Chacham

Showing results (31-40 of 49) with videos related to

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American Journal of Medical Genetics. Part A|August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
Clinical Genetics|March 12, 2020
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literatureOrna Staretz-Chacham, Iris Noyman, Ohad Wormser, et al.
Pediatric Nephrology (Berlin, Germany)|April 20, 2019
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in childrenAsaf Vivante, Orna Staretz Chacham, Shirlee Shril, et al.
Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.
Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.
American Journal of Medical Genetics. Part A|August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndromeOrna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.
Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, 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.
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
Clinical Genetics|March 12, 2020
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literatureOrna Staretz-Chacham, Iris Noyman, Ohad Wormser, et al.
Pediatric Nephrology (Berlin, Germany)|April 20, 2019
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in childrenAsaf Vivante, Orna Staretz Chacham, Shirlee Shril, et al.
Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.
Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.
American Journal of Medical Genetics. Part A|August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndromeOrna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.
Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, 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.
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
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