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Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma. [electronic resource] by
- Mohamad, Janan
- Sarig, Ofer
- Malki, Liron
- Rabinowitz, Tom
- Assaf, Sari
- Malovitski, Kiril
- Shkury, Eden
- Mayer, Talia
- Vodo, Dan
- Peled, Alon
- Daniely, Daniel
- Pavlovsky, Mor
- Shomron, Noam
- Samuelov, Liat
- Sprecher, Eli
Producer: 20210402
In:
The Journal of investigative dermatology vol. 140
Availability: No items available.
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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. [electronic resource] by
- Malki, Liron
- Sarig, Ofer
- Cesarato, Nicole
- Mohamad, Janan
- Canter, Talia
- Assaf, Sari
- Pavlovsky, Mor
- Vodo, Dan
- Anis, Yossi
- Bihari, Ofer
- Malovitski, Kiril
- Gat, Andrea
- Thiele, Holger
- White, Bethany E Perez
- Samuelov, Liat
- Nanda, Arti
- Paller, Amy S
- Betz, Regina C
- Sprecher, Eli
Producer: 20210427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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6.
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Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. [electronic resource] by
- Mohamad, Janan
- Sarig, Ofer
- Godsel, Lisa M
- Peled, Alon
- Malchin, Natalia
- Bochner, Ron
- Vodo, Dan
- Rabinowitz, Tom
- Pavlovsky, Mor
- Taiber, Shahar
- Fried, Maya
- Eskin-Schwartz, Marina
- Assi, Siwar
- Shomron, Noam
- Uitto, Jouni
- Koetsier, Jennifer L
- Bergman, Reuven
- Green, Kathleen J
- Sprecher, Eli
Producer: 20190610
In:
The Journal of investigative dermatology vol. 138
Availability: No items available.
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Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis. [electronic resource] by
- Peled, Alon
- Sarig, Ofer
- Sun, Guangping
- Samuelov, Liat
- Ma, Chi A
- Zhang, Yuan
- Dimaggio, Tom
- Nelson, Celeste G
- Stone, Kelly D
- Freeman, Alexandra F
- Malki, Liron
- Vidal, Lucia Seminario
- Chamarthy, Latha M
- Briskin, Valeria
- Mohamad, Janan
- Pavlovsky, Mor
- Walter, Jolan E
- Milner, Joshua D
- Sprecher, Eli
Producer: 20191112
In:
The Journal of allergy and clinical immunology vol. 143
Availability: No items available.
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Variant [electronic resource] by
- Malki, Liron
- Sarig, Ofer
- Romano, Maria-Teresa
- Méchin, Marie-Claire
- Peled, Alon
- Pavlovsky, Mor
- Warshauer, Emily
- Samuelov, Liat
- Uwakwe, Laura
- Briskin, Valeria
- Mohamad, Janan
- Gat, Andrea
- Isakov, Ofer
- Rabinowitz, Tom
- Shomron, Noam
- Adir, Noam
- Simon, Michel
- McMichael, Amy
- Dlova, Ncoza C
- Betz, Regina C
- Sprecher, Eli
Producer: 20190307
In:
The New England journal of medicine vol. 380
Availability: No items available.
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9.
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Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. [electronic resource] by
- Bochner, Ron
- Samuelov, Liat
- Sarig, Ofer
- Li, Qiaoli
- Adase, Christopher A
- Isakov, Ofer
- Malchin, Natalia
- Vodo, Dan
- Shayevitch, Ronna
- Peled, Alon
- Yu, Benjamin D
- Fainberg, Gilad
- Warshauer, Emily
- Adir, Noam
- Erez, Noam
- Gat, Andrea
- Gottlieb, Yehonatan
- Rogers, Tova
- Pavlovsky, Mor
- Goldberg, Ilan
- Shomron, Noam
- Sandilands, Aileen
- Campbell, Linda E
- MacCallum, Stephanie
- McLean, W H Irwin
- Ast, Gil
- Gallo, Richard L
- Uitto, Jouni
- Sprecher, Eli
Producer: 20170720
In:
The Journal of investigative dermatology vol. 137
Availability: No items available.
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