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Molecular Genetics and Metabolism|November 10, 2010
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi populationNurit Goldstein, Yoram Cohen, Ben Pode-Shakked, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|April 19, 2021
Neuro-Ophthalmic Phenotype of OPA3Ruth Huna-Baron, Gilad Yahalom, Yair Anikster, et al.Journal of Child Neurology|October 18, 2007
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiencyChen Hoffmann, Bruria Ben-Zeev, Yair Anikster, et al.British Journal of Haematology|June 26, 2003
Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndromeTehila Hyman, Marjan Huizing, Peter M Blumberg, et al.Journal of Pediatric Gastroenterology and Nutrition|September 20, 2013
Bitterness of glucose/galactose: novel mutations in the SLC5A1 geneBen Pode-Shakked, Orit Reish, Cigdem Aktuglu-Zeybek, et al.Clinical Immunology (Orlando, Fla.)|October 3, 2009
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasiaAtar Lev, Ninette Amariglio, Yael Levy, et al.European Journal of Medical Genetics|April 27, 2018
Phenotype variability in Hajdu-Cheney syndromeMiriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.Pediatric Research|March 22, 2008
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotypeBenjamin Dekel, Sally Metsuyanim, Nurit Goldstein, et al.Pediatric Endocrinology Reviews : PER|April 11, 2014
Glycogen storage disease type III in Israel: presentation and long-term outcomeEli Hershkovitz, Itay Forschner, Hanna Mandel, et al.Molecular Genetics and Metabolism Reports|January 13, 2025
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunctionUri Sprecher, Jeevitha Dsouza, Monzer Marisat, et al.Pageof 14