Works matching DE "DYSKERATOSIS congenita"


Results: 142
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    Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.

    Published in:
    British Journal of Haematology, 2018, v. 183, n. 1, p. 110, doi. 10.1111/bjh.15495
    By:
    • Fioredda, Francesca;
    • Iacobelli, Simona;
    • Korthof, Elisabeth T.;
    • Knol, Cora;
    • Biezen, Anja;
    • Bresters, Dorine;
    • Veys, Paul;
    • Yoshimi, Ayami;
    • Fagioli, Franca;
    • Mats, Brune;
    • Zecca, Marco;
    • Faraci, Maura;
    • Miano, Maurizio;
    • Arcuri, Luca;
    • Maschan, Michael;
    • O'Brien, Tracey;
    • Diaz, Miguel A.;
    • Sevilla, Julian;
    • Smith, Owen;
    • Peffault de Latour, Regis
    Publication type:
    Article
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    Revesz syndrome.

    Published in:
    Revista Brasileira de Oftalmologia, 2015, v. 74, n. 2, p. 110, doi. 10.5935/0034-7280.20150025
    By:
    • Issaho, Dayane Cristine;
    • Ramos Moreira, Ana Tereza;
    • Ribeiro, Lisandro Lima;
    • Zago, Rommel Josué;
    • Ribeiro, Christie Graf
    Publication type:
    Article
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    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

    Published in:
    Nature Genetics, 2012, v. 44, n. 3, p. 338, doi. 10.1038/ng.1084
    By:
    • Anderson, Beverley H;
    • Kasher, Paul R;
    • Mayer, Josephine;
    • Szynkiewicz, Marcin;
    • Jenkinson, Emma M;
    • Bhaskar, Sanjeev S;
    • Urquhart, Jill E;
    • Daly, Sarah B;
    • Dickerson, Jonathan E;
    • O'Sullivan, James;
    • Leibundgut, Elisabeth Oppliger;
    • Muter, Joanne;
    • Abdel-Salem, Ghada M H;
    • Babul-Hirji, Riyana;
    • Baxter, Peter;
    • Berger, Andrea;
    • Bonafé, Luisa;
    • Brunstom-Hernandez, Janice E;
    • Buckard, Johannes A;
    • Chitayat, David
    Publication type:
    Article
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    Vulval papules: A case for diagnosis.

    Published in:
    Australasian Journal of Dermatology, 2015, v. 56, n. 1, p. 44, doi. 10.1111/ajd.12120
    By:
    • Bunce, Penelope AM;
    • Dixit, Shreya;
    • Fischer, Gayle O
    Publication type:
    Article
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    Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

    Published in:
    Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.01250
    By:
    • Speckmann, Carsten;
    • Sangita Sahoo, Sushree;
    • Rizzi, Marta;
    • Hirabayashi, Shinsuke;
    • Karow, Axel;
    • Serwas, Nina Kathrin;
    • Hoemberg, Marc;
    • Damatova, Natalja;
    • Schindler, Detlev;
    • Vannier, Jean-Baptiste;
    • Boulton, Simon J.;
    • Pannicke, Ulrich;
    • Göhring, Gudrun;
    • Thomay, Kathrin;
    • Verdu-Amoros, J. J.;
    • Hauch, Holger;
    • Woessmann, Wilhelm;
    • Escherich, Gabriele;
    • Laack, Eckart;
    • Rindle, Liliana
    Publication type:
    Article
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