The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias

Por Faden, Maha A., Krakow, Deborah, Ezgu, Fatih, Rimoin, David L., Lachman, Ralph S.
Publicado em 2009

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Por Kasapkara, Çiğdem Seher, Tümer, Leyla, Zanetti, Nadia, Ezgü, Fatih, Lamantea, Eleonora, Zeviani, Massimo
Publicado no Turk J Haematol (2017)

Effect of Cytokine Signaling 3 Gene Polymorphisms in Childhood Obesity

Por Boyraz, Mehmet, Yeşilkaya, Ediz, Ezgü, Fatih, Bideci, Aysun, Doğan, Haldun, Ulucan, Korkut, Cinaz, Peyami
Publicado no J Clin Res Pediatr Endocrinol (2016)

Secondary Hemophagocytosis in Propionic Acidemia

Por Kasapkara, Cigdem Seher, Kangin, Murat, Oflaz Ozmen, Banu, Ozbek, Mehmet Nuri, Demir, Remezan, Karatas, Mustafa, Tumer, Leyla, Ezgu, Fatih Suhey, Hasanoglu, Alev
Publicado no Iran J Pediatr (2015)

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Por Jones, Simon A., Rojas-Caro, Sandra, Quinn, Anthony G., Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J. Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili
Publicado no Orphanet J Rare Dis (2017)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Por Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Publicado no J Med Genet (2016)