Works by Chandramouli, Balasubramanian


Results: 29
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    Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
    By:
    • Motta, Marialetizia;
    • Giancotti, Antonella;
    • Mastromoro, Gioia;
    • Chandramouli, Balasubramanian;
    • Pinna, Valentina;
    • Pantaleoni, Francesca;
    • Di Giosaffatte, Niccolò;
    • Petrini, Stefania;
    • Mazza, Tommaso;
    • D'Ambrosio, Valentina;
    • Versacci, Paolo;
    • Ventriglia, Flavia;
    • Chillemi, Giovanni;
    • Pizzuti, Antonio;
    • Tartaglia, Marco;
    • Luca, Alessandro
    Publication type:
    Article
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    Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 16, p. 2766, doi. 10.1093/hmg/ddac071
    By:
    • Motta, Marialetizia;
    • Solman, Maja;
    • Bonnard, Adeline A;
    • Kuechler, Alma;
    • Pantaleoni, Francesca;
    • Priolo, Manuela;
    • Chandramouli, Balasubramanian;
    • Coppola, Simona;
    • Pizzi, Simone;
    • Zara, Erika;
    • Ferilli, Marco;
    • Kayserili, Hülya;
    • Onesimo, Roberta;
    • Leoni, Chiara;
    • Brinkmann, Julia;
    • Vial, Yoann;
    • Kamphausen, Susanne B;
    • Thomas-Teinturier, Cécile;
    • Guimier, Anne;
    • Cordeddu, Viviana
    Publication type:
    Article
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