Authors:
Mandel, Hannah
Shemer, Revital
Borochowitz, Zvi U.
Okopnik, Marina
Sprecher, Eli
Citation: Mandel, Hannah et al., SERKAL Syndrome: An Autosomal-recessive disorder caused by a loss-of-function mutation in WNT4, American journal of human genetics , 82(1), 2008, pp. 39-47
Authors:
Sprecher, Eli
Ishida-Yamamoto, Akemi
Miizrahi-Koren, Mordechai
Rapaport, Debora
Goldsher, Dorit
Indelman, Margarita
Topaz, Orit
Chefetz, Ilana
Keren, Hanni
O'Brien, Timothy J.
Bercovich, Dani
Shalev, Stavit
Geiger, Dan
Bergman, Reuven
Horowitz, Mia
Mandel, Hanna
Citation: Sprecher, Eli et al., A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma, American journal of human genetics , 77(2), 2005, pp. 242-251
Authors:
Basel-Vanagaite, Lina
Attia, Revital
Ishida-Yamamoto, Akemi
Rainshtein, Limor
Amitai, Dan Ben
Lurie, Raziel
Pasmanik-Chor, Metsada
Indelman, Margarita
Zvulunov, Alex
Saban, Shirley
Magal, Nurit
Sprecher, Eli
Shohat, Mordechai
Citation: Basel-vanagaite, Lina et al., Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase, American journal of human genetics , 80(3), 2007, pp. 467-477
Authors:
Israeli, Shirli
Khamaysi, Ziyad
Fuchs-Telem, Dana
Nousbeck, Janna
Sprecher, Eli
Citation: Israeli, Shirli et al., A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 482-487