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Page 1
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: meiner v. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Among authors: meiner v. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112
Early clinical heterogeneity in choreoacanthocytosis.
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Lossos A, et al. Among authors: meiner v. Arch Neurol. 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. Arch Neurol. 2005. PMID: 15824261
The clinical spectrum of fetal Niemann-Pick type C.
Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, Sury V, Meir K, Nadjari M, Hermann G, Iancu TC, Shalev SA, Zeigler M. Spiegel R, et al. Among authors: meiner v. Am J Med Genet A. 2009 Mar;149A(3):446-50. doi: 10.1002/ajmg.a.32642. Am J Med Genet A. 2009. PMID: 19206179
Associations of maternal prepregnancy body mass index and gestational weight gain with adult offspring cardiometabolic risk factors: the Jerusalem Perinatal Family Follow-up Study.
Hochner H, Friedlander Y, Calderon-Margalit R, Meiner V, Sagy Y, Avgil-Tsadok M, Burger A, Savitsky B, Siscovick DS, Manor O. Hochner H, et al. Among authors: meiner v. Circulation. 2012 Mar 20;125(11):1381-9. doi: 10.1161/CIRCULATIONAHA.111.070060. Epub 2012 Feb 17. Circulation. 2012. PMID: 22344037 Free PMC article.
Maternal genetic variation accounts in part for the associations of maternal size during pregnancy with offspring cardiometabolic risk in adulthood.
Wander PL, Hochner H, Sitlani CM, Enquobahrie DA, Lumley T, Lawrence GM, Burger A, Savitsky B, Manor O, Meiner V, Hesselson S, Kwok PY, Siscovick DS, Friedlander Y. Wander PL, et al. Among authors: meiner v. PLoS One. 2014 Mar 26;9(3):e91835. doi: 10.1371/journal.pone.0091835. eCollection 2014. PLoS One. 2014. PMID: 24670385 Free PMC article.
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Schwahn BC, Karp N, Rosenblatt DS, Watkins D, Shaag A, Korman SH, Heyman SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O, Kohn Y. Lossos A, et al. Among authors: meiner v. JAMA Neurol. 2014 Jul 1;71(7):901-4. doi: 10.1001/jamaneurol.2014.116. JAMA Neurol. 2014. PMID: 24797679
146 results