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Filtri: Autore è Zenker, Martin  [Clear All Filters]
Journal Article
Fabretto A, Kutsche K, Harmsen M-B, Demarini S, Gasparini P, Fertz MCristina, Zenker M. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.

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