检索结果 - Tony Yammine

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    Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

    Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever 由 R Feghali, José-Noël Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly

    出版 2025
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  2. 2
    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome 由 José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Éliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert Brosh, André Mégarbané, Zoha Kibar

    出版 2012
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    Optical genome mapping enables constitutional chromosomal aberration detection

    Optical genome mapping enables constitutional chromosomal aberration detection 由 Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard, Marion Benoist, Guillaume van der Zande, Ellen Kater‐Baats, Imane Baatout, Ronald van Beek, Tony Yammine, Michiel Oorsprong, Faten Hsoumi, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen, Marc Pauper, Aziza Lebbar, Marian Stevens‐Kroef, Damien Sanlaville, Jean‐Michel Dupont, Dominique Smeets, Alexander Hoischen, Caroline Schluth–Bolard, Laïla El Khattabi

    出版 2021
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