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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
Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin
Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin
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Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

Israeli, Shirli ; Zamir, Hadas ; Sarig, Ofer ; Bergman, Reuven ; Sprecher, Eli

Journal of investigative dermatology, 2011-03, Vol.131 (3), p.779-781 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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3
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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4
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
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Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Mohamad, Janan ; Samuelov, Liat ; Malchin, Natalia ; Rabinowitz, Tom ; Assaf, Sari ; Malki, Liron ; Malovitski, Kiril ; Israeli, Shirli ; Grafi‐Cohen, Meital ; Bitterman‐Deutsch, Ora ; Molho‐Pessach, Vered ; Cohen‐Barak, Eran ; Bach, Gideon ; Garty, Ben Zion ; Bergman, Reuven ; Harel, Avikam ; Nanda, Arti ; Lestringant, Giles G. ; McGrath, John ; Shalev, Stavit ; Shomron, Noam ; Mashiah, Jacob ; Eskin‐Schwartz, Marina ; Sprecher, Eli ; Sarig, Ofer

Experimental dermatology, 2021-09, Vol.30 (9), p.1290-1297 [Periódico revisado por pares]

Denmark: Wiley Subscription Services, Inc

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5
Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris
Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris
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Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Sarig, Ofer ; Bercovici, Sivan ; Zoller, Lilach ; Goldberg, Ilan ; Indelman, Margarita ; Nahum, Sagi ; Israeli, Shirli ; Sagiv, Nadav ; Martinez de Morentin, Helena ; Katz, Oren ; Baum, Sharon ; Barzilai, Aviv ; Trau, Henri ; Murrell, Dedee F. ; Bergman, Reuven ; Hertl, Michael ; Rosenberg, Shai ; Nöthen, Markus M. ; Skorecki, Karl ; Schmidt, Enno ; Zillikens, Detlef ; Darvasi, Ariel ; Geiger, Dan ; Rosset, Saharon ; Ibrahim, Saleh M. ; Sprecher, Eli

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1798-1805 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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6
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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7
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
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The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

Goldsmith, Tomer ; Fuchs-Telem, Dana ; Israeli, Shirli ; Sarig, Ofer ; Padalon-Brauch, Gilly ; Bergman, Reuven ; Indelman, Margarita ; Sprecher, Eli ; Nousbeck, Janna

Experimental dermatology, 2013-04, Vol.22 (4), p.251-254 [Periódico revisado por pares]

Denmark: Blackwell Publishing Ltd

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8
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
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Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

Bergson, Shir ; Daniely, Daniel ; Bomze, David ; Mohamad, Janan ; Malovitski, Kiril ; Meijers, Odile ; Briskin, Valeria ; Bihari, Ofer ; Malchin, Natalia ; Israeli, Shirli ; Mashiah, Jacob ; Falik‐Zaccai, Tzipora ; Avitan‐Hersh, Emily ; Eskin‐Schwartz, Marina ; Allon‐Shalev, Stavit ; Sarig, Ofer ; Sprecher, Eli ; Samuelov, Liat

Pediatric dermatology, 2023-11, Vol.40 (6), p.1021-1027 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc

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9
Inflammatory peeling skin syndrome caused a novel mutation in CDSN
Inflammatory peeling skin syndrome caused a novel mutation in CDSN
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Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Telem, Dana Fuchs ; Israeli, Shirli ; Sarig, Ofer ; Sprecher, Eli

Archives of Dermatological Research, 2012-04, Vol.304 (3), p.251-255 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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10
Semidominant Inheritance in Epidermolytic Ichthyosis
Semidominant Inheritance in Epidermolytic Ichthyosis
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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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