Works matching IS 15524868 AND DT 2023 AND VI 193 AND IP 2

Results: 15
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    Adult experiences in Beckwith–Wiedemann syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 116, doi. 10.1002/ajmg.c.32046
    By:
    • Drust, William A.;
    • Mussa, Alessandro;
    • Gazzin, Andrea;
    • Lapunzina, Pablo;
    • Tenorio‐Castaño, Jair;
    • Nevado, Julian;
    • Pascual, Patricia;
    • Arias, Pedro;
    • Parra, Alejandro;
    • Getz, Kelly D.;
    • Kalish, Jennifer M.
    Publication type:
    Article
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    DNAJC21‐related thrombocytopenia in a young adult female.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 193, doi. 10.1002/ajmg.c.32043
    By:
    • Aslan, Deniz;
    • Akgun‐Dogan, Ozlem;
    • Ay, Beril;
    • Çamurdan, Mahmut Orhun;
    • Mancılar, Hanifenur;
    • Alanay, Yasemin
    Publication type:
    Article
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    Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 160, doi. 10.1002/ajmg.c.32034
    By:
    • Priolo, Manuela;
    • Mancini, Cecilia;
    • Radio, Francesca Clementina;
    • Chiriatti, Luigi;
    • Ciolfi, Andrea;
    • Cappelletti, Camilla;
    • Cordeddu, Viviana;
    • Pintomalli, Letizia;
    • Brusco, Alfredo;
    • Mammi, Corrado;
    • Tartaglia, Marco
    Publication type:
    Article
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    Publication schedule for 2023.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 101, doi. 10.1002/ajmg.c.31978
    Publication type:
    Article
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