Found: 5

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  • Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 994, doi. 10.1002/ajmg.a.61523
    By:
    • Ayoub, Sandy;
    • Ghali, Neeti;
    • Angwin, Chloe;
    • Baker, Duncan;
    • Baffini, Stella;
    • Brady, Angela F.;
    • Giovannucci Uzielli, Maria Luisa;
    • Giunta, Cecilia;
    • Johnson, Diana S.;
    • Kosho, Tomoki;
    • Neas, Katherine;
    • Pope, F. Michael;
    • Rutsch, Frank;
    • Scarselli, Gloria;
    • Sobey, Glenda;
    • Vandersteen, Anthony;
    • Dijk, Fleur S.
    Publication type:
    Article

  • A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
    By:
    • Huber, Céline;
    • Delezoide, Anee-Lise;
    • Guimiot, Fabien;
    • Baumann, Clarisse;
    • Malan, Valérie;
    • Le Merrer, Martine;
    • Da Silva, Daniela Bezerra;
    • Bonneau, Dominique;
    • Chatelain, Pierre;
    • Chu, Carol;
    • Clark, Robin;
    • Cox, Helen;
    • Edery, Patrick;
    • Edouard, Thomas;
    • Fano, Virginia;
    • Gibson, Kate;
    • Gillessen-Kaesbach, Gabriele;
    • Maria-Luisa Giovannucci-Uzielli;
    • Graul-Neumann, Luitgard Margarete;
    • van Hagen, Johana-Maria
    Publication type:
    Article

  • Analysis ofKIT,SCF, and Initial Screening ofSLUGin Patients with Piebaldism.

    Published in:
    Journal of Investigative Dermatology, 2005, v. 124, n. 3, p. 670, doi. 10.1111/j.0022-202X.2005.23637.x
    By:
    • Tomoko Murakami;
    • Naoko Hosomi;
    • Naoki Oiso;
    • Giovannucci-Uzielli, Maria Luisa;
    • Aquaron, Robert;
    • Masako Mizoguchi;
    • Atsushi Kato;
    • Masamitsu Ishii;
    • Bitner-Glindzicz, Maria;
    • Barnicoat, Angela;
    • Wilson, Louise;
    • Katsuhiko Tsukamoto;
    • Hiroshi Ueda;
    • Mancini, Anthony J.;
    • Tamio Suzuki;
    • Riley, Jacquely;
    • Miertus, Jan;
    • Camargo, Mauricio;
    • Santoro-Zea, Alexandra;
    • Atkin, Joan
    Publication type:
    Article

  • DHPLC analysis of the MECP2 gene in Italian Rett patients.

    Published in:
    Human Mutation, 2001, v. 18, n. 2, p. 132, doi. 10.1002/humu.1162
    By:
    • Nicolao, Piero;
    • Carella, Massimo;
    • Giometto, Bruno;
    • Tavolato, Bruno;
    • Cattin, Riccardo;
    • Giovannucci-Uzielli, Maria Luisa;
    • Vacca, Marcella;
    • Regione, Floriana Della;
    • Piva, Stefania;
    • Bortoluzzi, Stefania;
    • Gasparini, Paolo
    Publication type:
    Article

  • Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 501, doi. 10.1093/hmg/7.3.501
    By:
    • Ling, Mingfu;
    • McEachern, Gillian;
    • Seyda, Agnieszka;
    • MacKay, Nevi;
    • Scherer, Stephen W.;
    • Bratinova, Sacha;
    • Beatty, Barbara;
    • Giovannucci‐Uzielli, Maria Luisa;
    • Robinson, Brian H.
    Publication type:
    Article