検索結果 - Malak Al Ghamdi

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  1. 1
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 著者: Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    出版事項 2019
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    Artigo
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  2. 2
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy 著者: Laura van Berge, Eline M. Hamilton, Tarja Linnankivi, G. Uziel, Marjan E. Steenweg, Pirjo Isohanni, Nicole I. Wolf, Ingeborg Krägeloh‐Mann, N. J. Brautaset, P. Ian Andrews, Brigit A. de Jong, Malak Al Ghamdi, Wessel N. van Wieringen, Bakhos A. Tannous, Esther Hulleman, T. Wurdinger, Carola G.M. van Berkel, Emiel Polder, Truus E. M. Abbink, Eduard A. Struys, Gert C. Scheper, Marjo S. van der Knaap, F. Alehan, Richard Appleton, Eugen Boltshauser, Knut Brockmann, E Calado, A. Carius, I.F.M. de Coo, Rudy Van Coster, S. El-Zind, Özdem Ertürk Çetin, Л. М. Фадеева, Annette Feigenbaum, Sarenur Gökben, Mark Gorman, Sheffali Gulati, P. Hnevsova, Kairit Joost, Wolfgang Köhler, Anneli Kolk, Wolfgang Kristoferitsch, Elizabeth Lemos Silveira, Jaime Lin, S. Lutz, Carla Mendonça, C. Nuttin, Thomas Opladen, M. Savoiardo, Raphael Schiffmann, Angelika Seitz, S V Serkov, Shruti Sharma, Sylvia Stöckler, I. Karen Temple, Kayıhan Uluç, S. Vojta, Guy Wilms, Betty Wong, Zühal Yapıcı

    出版事項 2014
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