檢索結果 - Mohammed Al‐Raqad

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  1. 1
    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability 由 Poh Hui Chia, Franklin L. Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F. Nelson, William Xie, Samah Al‐Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A. Pouladi, Mohammed Al‐Raqad, Bruno Reversade

    出版 2018
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  2. 2
    Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS

    Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS 由 Takuji Yamauchi, Takeshi Masuda, Matthew C. Canver, Michael Seiler, Yuichiro Semba, Mohammad Shboul, Mohammed Al‐Raqad, Manami Maeda, Vivien A. C. Schoonenberg, Mitchel A. Cole, Claudio Macias-Treviño, Yuichi Ishikawa, Qiuming Yao, Michitaka Nakano, Fumio Arai, Stuart H. Orkin, Bruno Reversade, Silvia Buonamici, Luca Pinello, Koichi Akashi, Daniel E. Bauer, Takahiro Maeda

    出版 2018
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    SYT1-associated neurodevelopmental disorder: a case series

    SYT1-associated neurodevelopmental disorder: a case series 由 Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J Jiang, David J. Owen, Bradley J. Turner, Stewart Boyd, Mari Rossi, Mohammed Al‐Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias B. Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle D. Amaral, Whitley V. Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond

    出版 2018
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    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities 由 Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    出版 2021
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