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380 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: mandel h. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Lefeber DJ, et al. Among authors: mandel h. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242004 Free PMC article.
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. Among authors: mandel h. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. Mandel H, et al. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
Meiner V, Shpitzen S, Mandel H, Klar A, Ben-Neriah Z, Zlotogora J, Sagi M, Lossos A, Bargal R, Sury V, Carmi R, Leitersdorf E, Zeigler M. Meiner V, et al. Among authors: mandel h. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC).
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. Raas-Rothschild A, et al. Among authors: mandel h. J Clin Invest. 2000 Mar;105(5):673-81. doi: 10.1172/JCI5826. J Clin Invest. 2000. PMID: 10712439 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: mandel h. Am J Hum Genet. 1996 Nov;59(5):1012-8. Am J Hum Genet. 1996. PMID: 8900228 Free PMC article.
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN. Ekhilevitch N, et al. Among authors: mandel h. Clin Genet. 2016 Jul;90(1):84-9. doi: 10.1111/cge.12707. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26661508
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies.
Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC. Mandel H, et al. Hepatology. 2001 Oct;34(4 Pt 1):776-84. doi: 10.1053/jhep.2001.27664. Hepatology. 2001. PMID: 11584375
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Sarig O, et al. Among authors: mandel h. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918762
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