Works matching IS 17501172 AND DT 2021 AND VI 16

Results: 549
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    The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.

    Published in:
    2021
    By:
    • Bassanese, Giulia;
    • Wlodkowski, Tanja;
    • Servais, Aude;
    • Heidet, Laurence;
    • Roccatello, Dario;
    • Emma, Francesco;
    • Levtchenko, Elena;
    • Ariceta, Gema;
    • Bacchetta, Justine;
    • Capasso, Giovambattista;
    • Jankauskiene, Augustina;
    • Miglinas, Marius;
    • Ferraro, Pietro Manuel;
    • Montini, Giovanni;
    • Oh, Jun;
    • Decramer, Stephane;
    • Levart, Tanja Kersnik;
    • Wetzels, Jack;
    • Cornelissen, Elisabeth;
    • Devuyst, Olivier
    Publication type:
    journal article
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    Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

    Published in:
    2021
    By:
    • Mengel, Eugen;
    • Bembi, Bruno;
    • del Toro, Mireia;
    • Deodato, Federica;
    • Gautschi, Matthias;
    • Grunewald, Stephanie;
    • Grønborg, Sabine;
    • Héron, Bénédicte;
    • Maier, Esther M.;
    • Roubertie, Agathe;
    • Santra, Saikat;
    • Tylki-Szymanska, Anna;
    • Day, Simon;
    • Symonds, Tara;
    • Hudgens, Stacie;
    • Patterson, Marc C.;
    • Guldberg, Christina;
    • Ingemann, Linda;
    • Petersen, Nikolaj H. T.;
    • Kirkegaard, Thomas
    Publication type:
    corrected article
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    Growth in ataxia telangiectasia.

    Published in:
    2021
    By:
    • Natale, Valerie A. I.;
    • Cole, Tim J.;
    • Rothblum-Oviatt, Cynthia;
    • Wright, Jennifer;
    • Crawford, Thomas O.;
    • Lefton-Greif, Maureen A.;
    • McGrath-Morrow, Sharon A.;
    • Schlechter, Haley;
    • Lederman, Howard M.
    Publication type:
    journal article
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    Correction to: Growth in ataxia telangiectasia.

    Published in:
    2021
    By:
    • Natale, Valerie A. I.;
    • Cole, Tim J.;
    • Rothblum-Oviatt, Cynthia;
    • Wright, Jennifer;
    • Crawford, Thomas O.;
    • Lefton-Greif, Maureen A.;
    • McGrath-Morrow, Sharon A.;
    • Schlechter, Haley;
    • Lederman, Howard M.
    Publication type:
    corrected article
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    Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.

    Published in:
    2021
    By:
    • Zöllner, Johann Philipp;
    • Grau, Janina;
    • Rosenow, Felix;
    • Sauter, Matthias;
    • Knuf, Markus;
    • Kurlemann, Gerhard;
    • Mayer, Thomas;
    • Hertzberg, Christoph;
    • Bertsche, Astrid;
    • Immisch, Ilka;
    • Klein, Karl Martin;
    • Knake, Susanne;
    • Marquard, Klaus;
    • Meyer, Sascha;
    • Noda, Anna H.;
    • von Podewils, Felix;
    • Schäfer, Hannah;
    • Thiels, Charlotte;
    • Willems, Laurent M.;
    • Zukunft, Bianca
    Publication type:
    journal article
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    Growth in ataxia telangiectasia.

    Published in:
    Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01716-5
    By:
    • Natale, Valerie A. I.;
    • Cole, Tim J.;
    • Rothblum-Oviatt, Cynthia;
    • Wright, Jennifer;
    • Crawford, Thomas O.;
    • Lefton-Greif, Maureen A.;
    • McGrath-Morrow, Sharon A.;
    • Schlechter, Haley;
    • Lederman, Howard M.
    Publication type:
    Article
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    Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

    Published in:
    Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01692-w
    By:
    • Chi, Young-In;
    • Stodola, Timothy J.;
    • De Assuncao, Thiago M.;
    • Levrence, Elise N.;
    • Tripathi, Swarnendu;
    • Dsouza, Nikita R.;
    • Mathison, Angela J.;
    • Basel, Donald G.;
    • Volkman, Brian F.;
    • Smith, Brian C.;
    • Lomberk, Gwen;
    • Zimmermann, Michael T.;
    • Urrutia, Raul
    Publication type:
    Article
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    Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

    Published in:
    2021
    By:
    • Giugliani, Roberto;
    • Barth, Anneliese Lopes;
    • Dumas, Melissa Rossi Calvão;
    • da Silva Franco, José Francisco;
    • de Rosso Giuliani, Liane;
    • Grangeiro, Carlos Henrique Paiva;
    • Horovitz, Dafne Dain Gandelman;
    • Kim, Chong Ae;
    • de Araújo Leão, Emilia Katiane Embiruçu;
    • de Medeiros, Paula Frassinetti Vasconcelos;
    • Miguel, Diego Santana Chaves Geraldo;
    • Moreira, Maria Espírito Santo Almeida;
    • dos Santos, Helena Maria Guimarães Pimentel;
    • da Silva, Luiz Carlos Santana;
    • da Silva, Luiz Roberto;
    • de Souza, Isabel Neves;
    • Nalin, Tatiele;
    • Garcia, Daniel
    Publication type:
    journal article
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