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Journal of Child Neurology|January 24, 2013
The many faces of Glut1 deficiency syndromeMichal Tzadok, Andreea Nissenkorn, Keren Porper, et al.Biochemistry|September 14, 2011
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinaseTal Yardeni, Tsering Choekyi, Katherine Jacobs, et al.Molecular Genetics and Metabolism|April 9, 2011
A safety trial of high dose glyceryl triacetate for Canavan diseaseReeval Segel, Yair Anikster, Shoshana Zevin, et al.Plos One|June 23, 2011
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutationsManuela Vecsler, Bruria Ben Zeev, Igor Nudelman, et al.Journal of Human Genetics|April 24, 2010
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patientsRivka Shapiro, Yair Anikster, Tal Yardeni, et al.Diagnostics (Basel, Switzerland)|February 22, 2020
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two SiblingsSharon Barak, Yair Anikster, Ifat Sarouk, et al.The Journal of Clinical Endocrinology and Metabolism|July 27, 2006
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutationDalit Modan-Moses, Bruria Ben-Zeev, Chen Hoffmann, et al.Diagnostics (Basel, Switzerland)|July 18, 2020
Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108Sharon Barak, Yair Anikster, Ifat Sarouk, et al.European Journal of Medical Genetics|November 1, 2015
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindredBen Pode-Shakked, Dina Marek-Yagel, Shoshana Greenberger, et al.Pediatric Nephrology (Berlin, Germany)|December 31, 2005
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndromeDanny Lotan, Arik Eisenkraft, Jeffrey M Jacobsson, et al.Pageof 14