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Page 1
Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. Peled A, et al. Among authors: malki l. J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21. J Allergy Clin Immunol. 2019. PMID: 30248356 Clinical Trial.
Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.
Mohamad J, Sarig O, Malki L, Rabinowitz T, Assaf S, Malovitski K, Shkury E, Mayer T, Vodo D, Peled A, Daniely D, Pavlovsky M, Shomron N, Samuelov L, Sprecher E. Mohamad J, et al. Among authors: malki l. J Invest Dermatol. 2020 Nov;140(11):2178-2187. doi: 10.1016/j.jid.2020.02.030. Epub 2020 Apr 2. J Invest Dermatol. 2020. PMID: 32247861 Free article.
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Malki L, et al. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336749 Free PMC article.
Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.
Mohamad J, Samuelov L, Malki L, Peled A, Pavlovsky M, Malovitski K, Taiber S, Adir N, Rabinowitz T, Shomron N, Milner JD, Lestringant G, Sarig O, Sprecher E. Mohamad J, et al. Among authors: malki l. Clin Exp Dermatol. 2021 Jan;46(1):103-108. doi: 10.1111/ced.14384. Epub 2020 Sep 12. Clin Exp Dermatol. 2021. PMID: 32683719
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M, Peled A, Samuelov L, Malki L, Malovitski K, Assaf S, Mohamad J, Meijers O, Eskin-Schwartz M, Sarig O, Sprecher E. Pavlovsky M, et al. Among authors: malki l. Clin Exp Dermatol. 2021 Jun;46(4):663-668. doi: 10.1111/ced.14509. Epub 2020 Dec 20. Clin Exp Dermatol. 2021. PMID: 33190296
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O. Mohamad J, et al. Among authors: malki l. Exp Dermatol. 2021 Sep;30(9):1290-1297. doi: 10.1111/exd.14345. Epub 2021 Apr 15. Exp Dermatol. 2021. PMID: 33786896
23 results