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

Por Israeli, Shirli, Khamaysi, Ziyad, Fuchs-Telem, Dana, Nousbeck, Janna, Bergman, Reuven, Sarig, Ofer, Sprecher, Eli
Publicado em 2011

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Por 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
Publicado em 2012

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

Por 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
Publicado em 2012