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1
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
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Artigo
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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
Vorinostat, a histone deacetylase inhibitor, as a potential novel treatment for psoriasis
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Artigo
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Vorinostat, a histone deacetylase inhibitor, as a potential novel treatment for psoriasis

Samuelov, Liat ; Bochner, Ron ; Magal, Lee ; Malovitski, Kiril ; Sagiv, Nadav ; Nousbeck, Janna ; Keren, Aviad ; Fuchs‐Telem, Dana ; Sarig, Ofer ; Gilhar, Amos ; Sprecher, Eli

Experimental dermatology, 2022-04, Vol.31 (4), p.567-576 [Periódico revisado por pares]

Denmark: Wiley Subscription Services, Inc

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3
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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4
A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia
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Artigo
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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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5
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
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Artigo
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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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6
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1
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Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

Sarig, Ofer ; Goldsher, Dorit ; Nousbeck, Janna ; Fuchs-Telem, Dana ; Cohen-Katsenelson, Ksenya ; Iancu, Theodore C. ; Manov, Irena ; Saada, Ann ; Sprecher, Eli ; Mandel, Hanna

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2204-2215 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Semidominant Inheritance in Epidermolytic Ichthyosis
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Artigo
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Semidominant Inheritance in Epidermolytic Ichthyosis

Nousbeck, Janna ; Padalon-Brauch, Gilly ; Fuchs-Telem, Dana ; Israeli, Shirli ; Sarig, Ofer ; Sheffer, Ruth ; Sprecher, Eli

Journal of investigative dermatology, 2013-11, Vol.133 (11), p.2626-2628 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis
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Artigo
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Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis

Nousbeck, Janna ; Sarig, Ofer ; Avidan, Nili ; Indelman, Margarita ; Bergman, Reuven ; Ramon, Michal ; Enk, Claes D. ; Sprecher, Eli

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.378-387 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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9
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63
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Artigo
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RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63

Warshauer, Emily ; Samuelov, Liat ; Sarig, Ofer ; Vodo, Dan ; Bindereif, Albrecht ; Kanaan, Moien ; Gat, Uri ; Fuchs-Telem, Dana ; Shomron, Noam ; Farberov, Luba ; Pasmanik-Chor, Metsada ; Nardini, Gil ; Winkler, Eyal ; Meilik, Benjamin ; Petit, Isabelle ; Aberdam, Daniel ; Paus, Ralf ; Sprecher, Eli ; Nousbeck, Janna

Experimental dermatology, 2015-08, Vol.24 (8), p.618-622 [Periódico revisado por pares]

Denmark: Blackwell Publishing Ltd

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10
A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype
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Artigo
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A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype

Goldsmith, Tomer ; Eytan, Ori ; Magal, Lee ; Solomon, Michal ; Israeli, Shirli ; Warshauer, Emily ; Grafi-Cohen, Meital ; Aberdam, Daniel ; van Bokhoven, Hans ; Zhou, Huiqing ; Sarig, Ofer ; Sprecher, Eli ; Nousbeck, Janna

Journal of investigative dermatology, 2014-08, Vol.134 (8), p.2277-2280 [Periódico revisado por pares]

United States: Elsevier Inc

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