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120 results
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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Saada A, et al. Among authors: shaag a. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. Shaag A, et al. Am J Hum Genet. 1995 Sep;57(3):572-80. Am J Hum Genet. 1995. PMID: 7668285 Free PMC article.
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
Elpeleg ON, Shaag A, Anikster Y, Jakobs C. Elpeleg ON, et al. Among authors: shaag a. J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008. J Inherit Metab Dis. 1994. PMID: 7707689
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A. Elpeleg ON, et al. Among authors: shaag a. Am J Hum Genet. 1994 Aug;55(2):287-8. Am J Hum Genet. 1994. PMID: 8037206 Free PMC article.
Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.
Filon D, Oron V, Krichevski S, Shaag A, Shaag Y, Warren TC, Goldfarb A, Shneor Y, Koren A, Aker M, et al. Filon D, et al. Among authors: shaag a, shaag y. Am J Hum Genet. 1994 May;54(5):836-43. Am J Hum Genet. 1994. PMID: 8178823 Free PMC article.
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Anikster Y, et al. Among authors: shaag a. Am J Hum Genet. 1996 Nov;59(5):1012-8. Am J Hum Genet. 1996. PMID: 8900228 Free PMC article.
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J. Elpeleg ON, et al. Among authors: shaag a. Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>;2-z. Muscle Nerve. 1997. PMID: 9040667 No abstract available.
Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. Shaag A, et al. Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9. doi: 10.1006/bbrc.1997.6496. Biochem Biophys Res Commun. 1997. PMID: 9168904
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Elpeleg ON, et al. Among authors: shaag a. Hum Mutat. 1997;10(3):256-7. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9298831 No abstract available.
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. Shaag A, et al. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985
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