Khayat M - Search Results

1

A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.

Cohen-Barak E, Danial-Farran N, Khayat M, Chervinsky E, Nevet JM, Ziv M, Shalev SA. Cohen-Barak E, et al. Among authors: khayat m. JAMA Dermatol. 2019 Apr 1;155(4):498-500. doi: 10.1001/jamadermatol.2018.5368. JAMA Dermatol. 2019. PMID: 30785604 No abstract available.

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

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.

Khayat M, Hardouf H, Zlotogora J, Shalev SA. Khayat M, et al. Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746. Am J Med Genet A. 2010. PMID: 21108394

4

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

5

Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern.

Levin C, Zalman L, Tamary H, Krasnov T, Khayat M, Shalev S, Salama I, Koren A. Levin C, et al. Among authors: khayat m. Pediatr Blood Cancer. 2013 Oct;60(10):E128-30. doi: 10.1002/pbc.24581. Epub 2013 May 6. Pediatr Blood Cancer. 2013. PMID: 23650215 Clinical Trial.

6

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Spiegel R, et al. Among authors: khayat m. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281368 Free PMC article. Clinical Trial.

7

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I. Blumen SC, et al. Among authors: khayat m. Isr Med Assoc J. 2013 Dec;15(12):748-52. Isr Med Assoc J. 2013. PMID: 24449978 Free article.

8

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

Gal M, Levanon EY, Hujeirat Y, Khayat M, Pe'er J, Shalev S. Gal M, et al. Among authors: khayat m. Am J Med Genet A. 2014 Dec;164A(12):2996-3002. doi: 10.1002/ajmg.a.36739. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250762

9

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. Mandel H, et al. Among authors: khayat m. Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28. Eur J Med Genet. 2014. PMID: 25270050

10

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Shalev SA, Khayat M, Etty DS, Elpeleg O. Shalev SA, et al. Among authors: khayat m. Am J Med Genet A. 2015 Mar;167A(3):607-11. doi: 10.1002/ajmg.a.36906. Am J Med Genet A. 2015. PMID: 25691413

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