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收藏CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
Wilson, Matthew P.; Durin, Zoe; Unal, Ozlem; Ng, Bobby G.; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gunduz, Mehmet; Kose, Guluen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H.; Jaeken, Jaak; Foulquier, Francois; Matthijs, Gert
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收藏Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B.
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收藏Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
Karaca, Mehmet; Ozgul, Riza Koksal; Unal, Ozlem; Yucel-Yilmaz, Didem; Kilic, Mustafa; Hismi, Burcu; Tokatli, Aysegul; Coskun, Turgay; Dursun, Ali; Sivri, Hatice Serap
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收藏Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
Hu, Liyan; Diez-Fernandez, Carmen; Ruefenacht, Veronique; Hismi, Burcu Ozturk; Unal, Ozlem; Soyucen, Erdogan; Coker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Perez-Tur, Jordi; Rubio, Vicente; Haeberle, Johannes
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