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Material Type: Artigo
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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14Fuchs-Telem, Dana ; Sarig, Ofer ; van Steensel, Maurice A.M. ; Isakov, Ofer ; Israeli, Shirli ; Nousbeck, Janna ; Richard, Katharina ; Winnepenninckx, Veronique ; Vernooij, Marigje ; Shomron, Noam ; Uitto, Jouni ; Fleckman, Philip ; Richard, Gabriele ; Sprecher, EliAmerican journal of human genetics, 2012-07, Vol.91 (1), p.163-170 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital IchthyosisIsraeli, Shirli ; Khamaysi, Ziyad ; Fuchs-Telem, Dana ; Nousbeck, Janna ; Bergman, Reuven ; Sarig, Ofer ; Sprecher, EliAmerican journal of human genetics, 2011-04, Vol.88 (4), p.482-487 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant AdermatoglyphiaNousbeck, Janna ; Burger, Bettina ; Fuchs-Telem, Dana ; Pavlovsky, Mor ; Fenig, Shlomit ; Sarig, Ofer ; Itin, Peter ; Sprecher, EliAmerican journal of human genetics, 2011-08, Vol.89 (2), p.302-307 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A MutationSarig, Ofer ; Nahum, Sagi ; Rapaport, Debora ; Ishida-Yamamoto, Akemi ; Fuchs-Telem, Dana ; Qiaoli, Li ; Cohen-Katsenelson, Ksenya ; Spiegel, Ronen ; Nousbeck, Janna ; Israeli, Shirli ; Borochowitz, Zvi-Uri ; Padalon-Brauch, Gilly ; Uitto, Jouni ; Horowitz, Mia ; Shalev, Stavit ; Sprecher, EliAmerican journal of human genetics, 2012-08, Vol.91 (2), p.337-342 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome BiogenesisNousbeck, Janna ; Spiegel, Ronen ; Ishida-Yamamoto, Akemi ; Indelman, Margarita ; Shani-Adir, Ayelet ; Adir, Noam ; Lipkin, Ehud ; Bercovici, Sivan ; Geiger, Dan ; van Steensel, Maurice A. ; Steijlen, Peter M. ; Bergman, Reuven ; Bindereif, Albrecht ; Choder, Mordechai ; Shalev, Stavit ; Sprecher, EliAmerican journal of human genetics, 2008-05, Vol.82 (5), p.1114-1121 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |