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Molecular Genetics and Metabolism|May 27, 2003
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiencyAnn Saada, Avraham Shaag, Orly ElpelegJournal of Molecular Medicine (Berlin, Germany)|July 12, 2002
Depletion of the other genome-mitochondrial DNA depletion syndromes in humansOrly Elpeleg, Hanna Mandel, Ann SaadaNeurogenetics|April 29, 2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathyRonen Spiegel, Avraham Shaag, Stavit Shalev, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|March 26, 2008
TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiencyMatan Rapoport, Ann Saada, Orly Elpeleg, et al.Neurology. Genetics|April 29, 2016
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, et al.Implant Dentistry|June 13, 2006
Posttraumatic dental implant placement in a patient with maple syrup urine diseaseDan Oelgiesser, Liran Levin, Orly Elpeleg, et al.Harefuah|March 28, 2018
[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS]Asaf Ta-Shma, Simon Edvardson, Orly Elpeleg, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3Stavit Allon Shalev, Morad Khayat, Daniel-Spiegl Etty, et al.Proceedings of the National Academy of Sciences of the United States of America|April 4, 2007
Cryptic proteolytic activity of dihydrolipoamide dehydrogenaseNgolela Esther Babady, Yuan-Ping Pang, Orly Elpeleg, et al.Pageof 22