Hasil Pencarian - Ellen Moran

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  1. 1
    P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome

    P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome oleh Donna McDonald-McGinn, Victoria Giunta, T. Blaine Crowley, Daniel McGinn, Lydia Rockart, Audrey Green, Beverly Emanuel, Rosemarie Smith, Ellen Moran, Maciej Geremek, Elaine Zackai, Beata Nowakowska

    Diterbitkan 2024-01-01
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  2. 2
    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. oleh Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann

    Diterbitkan 2016-04-01
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  3. 3
    EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

    EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum oleh Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

    Diterbitkan 2021-03-01
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