Works matching IS 15524868 AND DT 2022 AND VI 190 AND IP 1


Results: 14
    1

    Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
    By:
    • Cappuccio, Gerarda;
    • Brillante, Simona;
    • Tammaro, Roberta;
    • Pinelli, Michele;
    • De Bernardi, Margherita Lucia;
    • Gensini, Maria Grazia;
    • Bijlsma, Emilia K.;
    • Koopmann, Tamara T.;
    • Hoffer, Mariette J. V.;
    • McDonald, Kimberly;
    • Hendon, Laura G.;
    • Douzgou, Sofia;
    • Deshpande, Charulata;
    • D'Arrigo, Stefano;
    • Torella, Annalaura;
    • Nigro, Vincenzo;
    • Franco, Brunella;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
    2

    The role of cilia for hydrocephalus formation.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 47, doi. 10.1002/ajmg.c.31972
    By:
    • Wallmeier, Julia;
    • Dallmayer, Marlene;
    • Omran, Heymut
    Publication type:
    Article
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    OFD1: One gene, several disorders.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 57, doi. 10.1002/ajmg.c.31962
    By:
    • Pezzella, Nunziana;
    • Bove, Guglielmo;
    • Tammaro, Roberta;
    • Franco, Brunella
    Publication type:
    Article
    11
    12

    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 3, doi. 10.1002/ajmg.c.31919
    Publication type:
    Article
    13
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