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Frontiers in Genetics|September 1, 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 geneDina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, et al.Molecular Genetics and Metabolism Reports|September 9, 2020
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable diseaseYuval E Landau, Gali Heimer, Ortal Barel, et al.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.Nutrients|September 28, 2021
Dietary-Induced Ketogenesis: Adults Are Not ChildrenKeren Porper, Leor Zach, Yael Shpatz, et al.Journal of Human Genetics|February 27, 2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) geneDani Bercovich, Arava Elimelech, Joel Zlotogora, 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.Molecular Genetics and Metabolism|January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filteringThomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.Annals of Clinical and Translational Neurology|October 31, 2014
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsRosa Ferriero, Audrey Boutron, Michele Brivet, et al.Human Genetics|August 22, 2002
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, et al.Pageof 14