Works matching DE "CRISPONI syndrome"


Results: 7
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    Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
    By:
    • Angius, Andrea;
    • Uva, Paolo;
    • Oppo, Manuela;
    • Buers, Insa;
    • Persico, Ivana;
    • Onano, Stefano;
    • Cuccuru, Gianmauro;
    • Van Allen, Margot I.;
    • Hulait, Gurdip;
    • Aubertin, Gudrun;
    • Muntoni, Francesco;
    • Fry, Andrew E.;
    • Annerén, Göran;
    • Stattin, Eva‐Lena;
    • Palomares‐Bralo, María;
    • Santos‐Simarro, Fernando;
    • Cucca, Francesco;
    • Crisponi, Giangiorgio;
    • Rutsch, Frank;
    • Crisponi, Laura
    Publication type:
    Article
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    Neonatal Hyperekplexia.

    Published in:
    Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201
    By:
    • Tanigasalam, Vasanthan
    Publication type:
    Article