Khayat M - Search Results

1

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. Khayat M, et al. Mol Genet Metab. 2008 Aug;94(4):431-434. doi: 10.1016/j.ymgme.2008.04.008. Epub 2008 May 15. Mol Genet Metab. 2008. PMID: 18485777

2

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz ZU, Gershoni-Baruch R, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E. Abu Sa'd J, et al. Among authors: khayat m. J Invest Dermatol. 2006 Apr;126(4):777-81. doi: 10.1038/sj.jid.5700163. J Invest Dermatol. 2006. PMID: 16439963 Free article.

3

Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.

Luder AS, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-Zaccai TC. Luder AS, et al. Among authors: khayat m. J Pediatr. 2007 Jun;150(6):656-8, 658.e1. doi: 10.1016/j.jpeds.2007.03.025. J Pediatr. 2007. PMID: 17517257

4

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.

Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Falik-Zaccai TC, et al. Among authors: khayat m. Am J Med Genet A. 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309. Am J Med Genet A. 2008. PMID: 18446857

5

Population screening in a Druze community: the challenge and the reward.

Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M. Falik-Zaccai TC, et al. Among authors: khayat m. Genet Med. 2008 Dec;10(12):903-9. doi: 10.1097/GIM.0b013e31818d0e0f. Genet Med. 2008. PMID: 19092443 Free article.

6

Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.

Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC. Suriu C, et al. Among authors: khayat m. Clin Genet. 2009 Mar;75(3):230-6. doi: 10.1111/j.1399-0004.2008.01143.x. Clin Genet. 2009. PMID: 19250380

7

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. Falik-Zaccai TC, et al. Among authors: khayat m. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308961

8

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Klar A, Navon-Elkan P, Rubinow A, Branski D, Hurvitz H, Christensen E, Khayat M, Falik-Zaccai TC. Klar A, et al. Among authors: khayat m. Eur J Pediatr. 2010 Jun;169(6):727-32. doi: 10.1007/s00431-009-1102-1. Epub 2009 Nov 24. Eur J Pediatr. 2010. PMID: 19937054

9

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.

Genzer-Nir M, Khayat M, Kogan L, Cohen HI, Hershkowitz M, Geiger D, Falik-Zaccai TC. Genzer-Nir M, et al. Among authors: khayat m. Eur J Hum Genet. 2010 Jun;18(6):662-7. doi: 10.1038/ejhg.2009.236. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145678 Free PMC article.

10

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. Spiegel R, et al. Among authors: khayat m. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

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