Resultados de búsqueda - Semra Gürsoy

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  1. 1
    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation por Zain Dardas, Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay, Bobby G. Ng, Kanae Sano, Amr S. Saad, Haowei Du, Riccardo Sangermano, Sohil G Patankar, Shalini N. Jhangiani, Semra Gürsoy, Mohamed S. Abdel‐Hamid, Mahmoud K.H. Ahmed, Reza Maroofian, Rauan Kaiyrzhanov, Kamran Salayev, Wendy D Jones, Armando Caballero, Lucy McGavin, Michael W. Spiller, Miranda Durkie, Nicholas Wood, Lauren O’Grady, Paula Goldenberg, Ann M. Neumeyer, Amber Begtrup, Sherif F. Abdel‐Ghafar, Maha S. Zaki, Hilde Van Esch, Jennifer E. Posey, Olivia Wenger, Ethan M. Scott, Kinga M. Bujakowska, Richard A. Gibbs, Davut Pehli̇van, Dana Marafi, Joseph S. Leslie, Nishanka Ubeyratna, Jacob Day, Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim, Lama AlAbdi, Fowzan S. Alkuraya, Yoichi Takeda, Hudson H. Freeze, Daniel N. Hebert, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    Publicado 2025
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  2. 2
    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy por Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu‐Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Çinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

    Publicado 2022
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