Resultats de la cerca - Ali Dursun

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  1. 1
    Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

    Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency per Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, James V. Leonard, Jean-Marie Saudubray, Antònia Ribes, H. Serap Kalkanoğlu, Allan M. Lund, B. Merinero, Moacır Wajner, M. Troncoso, Monique Williams, John H. Walter, Jaume Campistol, Milagros MartÍ-Herrero, Melissa Caswill, Alberto Burlina, Florian B. Lagler, Esther M. Maier, Bernd Schwahn, Ayşegül Tokatlı, Ali Dursun, Turgay Coşkun, R. A. Chalmers, David M. Koeller, Johannes Zschocke, Ernst Christensen, Peter Burgard, Georg F. Hoffmann

    Publicat 2006
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  2. 2
    Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

    Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients per Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoğlu, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, J. Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong-Hon Kang, Masashi Mizuguchi, Bruce A. Barshop, Shohei Fuchinoue, Sara Seneca, Susan Zeesman, Ina Knerr, Margarita Rodés, Pornswan Wasant, Ichiro Yoshida, Linda De Meırleır, Md. Abdul Jalil, Laila Begum, Masahisa Horiuchi, Nobuhiko Katunuma, Shiro Nakagawa, Takeyori Saheki

    Publicat 2003
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  3. 3
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction per Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Publicat 2015
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