Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 2


Results: 13
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    Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
    By:
    • Cordeddu, Viviana;
    • Macke, Erica L.;
    • Radio, Francesca Clementina;
    • Lo Cicero, Stefania;
    • Pantaleoni, Francesca;
    • Tatti, Massimo;
    • Bellacchio, Emanuele;
    • Ciolfi, Andrea;
    • Agolini, Emanuele;
    • Bruselles, Alessandro;
    • Brunetti‐Pierri, Nicola;
    • Suri, Mohnish;
    • Josephs, Katherine S.;
    • McEntagart, Meriel;
    • Lanpher, Brendan;
    • Nickels, Katherine C.;
    • Haworth, Andrea;
    • Reed, Laura;
    • Cappuccio, Gerarda;
    • Mammi, Isabella
    Publication type:
    Article
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    High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 2, p. 166, doi. 10.1111/cge.13768
    By:
    • Gouronc, Aurélie;
    • Zilliox, Vincent;
    • Jacquemont, Marie‐Line;
    • Darcel, Françoise;
    • Leuvrey, Anne‐Sophie;
    • Nourisson, Elsa;
    • Antin, Manuela;
    • Alessandri, Jean‐Luc;
    • Doray, Bérénice;
    • Gueguen, Paul;
    • Payet, Frédérique;
    • Randrianaivo, Hanitra;
    • Stoetzel, Corinne;
    • Scheidecker, Sophie;
    • Flodrops, Hugues;
    • Dollfus, Hélène;
    • Muller, Jean
    Publication type:
    Article
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