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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
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
Dodiuk-Gad RP, Cohen-Barak E, Khayat M, Milo H, Amariglio-Diskin L, Danial-Faran N, Sah M, Ziv M, Shani-Adir A, Amichai B, Zlotogorski A, Borochowitz Z, Rozenman D, Shalev S. Dodiuk-Gad RP, et al. Among authors: khayat m. Br J Dermatol. 2016 Mar;174(3):562-8. doi: 10.1111/bjd.14220. Epub 2015 Dec 17. Br J Dermatol. 2016. PMID: 26471493
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Spiegel R, et al. Among authors: khayat m. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11. J Med Genet. 2016. PMID: 26561570 Free PMC article.
Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects': reply from the authors.
Dodiuk-Gad RP, Cohen-Barak E, Khayat M, Milo H, Amariglio-Diskin L, Danial-Faran N, Sah M, Ziv M, Shani-Adir A, Amichai B, Zlotogorski A, Borochowitz Z, Rozenman D, Shalev S. Dodiuk-Gad RP, et al. Among authors: khayat m. Br J Dermatol. 2016 Jul;175(1):224. doi: 10.1111/bjd.14544. Epub 2016 Jun 7. Br J Dermatol. 2016. PMID: 27272550 No abstract available.
279 results