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Refinado por: autor: Nousbeck, Janna remover Nome da Publicação: American Journal Of Human Genetics remover
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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Fuchs-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, Eli

American journal of human genetics, 2012-07, Vol.91 (1), p.163-170 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
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A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

Israeli, Shirli ; Khamaysi, Ziyad ; Fuchs-Telem, Dana ; Nousbeck, Janna ; Bergman, Reuven ; Sarig, Ofer ; Sprecher, Eli

American journal of human genetics, 2011-04, Vol.88 (4), p.482-487 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia
A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia
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A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia

Nousbeck, Janna ; Burger, Bettina ; Fuchs-Telem, Dana ; Pavlovsky, Mor ; Fenig, Shlomit ; Sarig, Ofer ; Itin, Peter ; Sprecher, Eli

American journal of human genetics, 2011-08, Vol.89 (2), p.302-307 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
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Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Sarig, 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, Eli

American journal of human genetics, 2012-08, Vol.91 (2), p.337-342 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis
Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis
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Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Nousbeck, 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, Eli

American journal of human genetics, 2008-05, Vol.82 (5), p.1114-1121 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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