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Ben Pode-Shakked

Showing results (41-50 of 85) with videos related to

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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.
European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.
European Journal of Medical Genetics|November 19, 2021
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivityOdelia Chorin, Guy Chowers, Rawan Agbariah, et al.
Journal of Neurology|September 10, 2014
Costeff syndrome: clinical features and natural historyGilad Yahalom, Yair Anikster, Ruth Huna-Baron, et al.
Scientific Reports|March 30, 2016
Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem CellsNaomi Pode-Shakked, Oren Pleniceanu, Rotem Gershon, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.
European Journal of Medical Genetics|May 13, 2022
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?Or Steg Saban, Ben Pode-Shakked, Bassam Abu-Libdeh, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Human Genetics|July 25, 2012
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaIfat Bar-joseph, Elon Pras, Haike Reznik-Wolf, et al.
Pageof 9

Showing results (41-50 of 85) with videos related to

Sort By:
Pageof 9
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.
European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.
European Journal of Medical Genetics|November 19, 2021
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivityOdelia Chorin, Guy Chowers, Rawan Agbariah, et al.
Journal of Neurology|September 10, 2014
Costeff syndrome: clinical features and natural historyGilad Yahalom, Yair Anikster, Ruth Huna-Baron, et al.
Scientific Reports|March 30, 2016
Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem CellsNaomi Pode-Shakked, Oren Pleniceanu, Rotem Gershon, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.
European Journal of Medical Genetics|May 13, 2022
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?Or Steg Saban, Ben Pode-Shakked, Bassam Abu-Libdeh, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Human Genetics|July 25, 2012
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaIfat Bar-joseph, Elon Pras, Haike Reznik-Wolf, et al.
Pageof 9