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