Works about SKELETAL dysplasia

Results: 551
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    Orthopaedic manifestations of pseudoachondroplasia.

    Published in:
    Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2019, v. 13, n. 4, p. 409, doi. 10.1302/1863-2548.13.190066
    By:
    • Weiner, D. S.;
    • Guirguis, J.;
    • Makowski, M.;
    • Testa, S.;
    • Shauver, L.;
    • Morgan, D.
    Publication type:
    Article
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    Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.

    Published in:
    Modern Rheumatology, 2024, v. 34, n. 4, p. 705, doi. 10.1093/mr/road070
    By:
    • Aniceto Moreira, Larissa;
    • Rocha Carvalho, Daniel;
    • Lima Santos, Savana Camilla;
    • Silva, Cynthia Costa E.;
    • Araujo Ferreira, Bruno Silva;
    • da Cunha, Bernardo Matos;
    • Costa Silveira, Karina;
    • Jazmin Lacarrubba-Flores, Maria Dora;
    • Pontes Cavalcanti, Denise;
    • Henrique da Mota, Licia Maria
    Publication type:
    Article
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    Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1328005
    By:
    • Gernez, Yael;
    • Narula, Mansi;
    • Cepika, Alma-Martina;
    • Camacho, Juanita Valdes;
    • Hoyte, Elisabeth G.;
    • Mouradian, Kirsten;
    • Glader, Bertil;
    • Singh, Deepika;
    • Sathi, Bindu;
    • Rao, Latha;
    • Tolin, Ana L.;
    • Weinberg, Kenneth I.;
    • Lewis, David B.;
    • Bacchetta, Rosa;
    • Weinacht, Katja G.
    Publication type:
    Article
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    A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.

    Published in:
    Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2019.01383
    By:
    • Gomes, Caio Perez;
    • Marins, Maryana Mara;
    • Motta, Fabiana Louise;
    • Kyosen, Sandra Obikawa;
    • Curiati, Marco Antonio;
    • D'Almeida, Vânia;
    • Martins, Ana Maria;
    • Pesquero, João Bosco
    Publication type:
    Article
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    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640
    By:
    • den Hollander, Bibiche;
    • Rasing, Anne;
    • Post, Merel A.;
    • Klein, Willemijn M.;
    • Oud, Machteld M.;
    • Brands, Marion M.;
    • de Boer, Lonneke;
    • Engelke, Udo F. H.;
    • van Essen, Peter;
    • Fuchs, Sabine A.;
    • Haaxma, Charlotte A.;
    • Jensson, Brynjar O.;
    • Kluijtmans, Leo A. J.;
    • Lengyel, Anna;
    • Lichtenbelt, Klaske D.;
    • Østergaard, Elsebet;
    • Peters, Gera;
    • Salvarinova, Ramona;
    • Simon, Marleen E. H.;
    • Stefansson, Kari
    Publication type:
    Article
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    CLEIDOCRANIAL DYSPLASIA: A CASE REPORT.

    Published in:
    2017
    By:
    • Butnariu, Lăcrămioara Ionela;
    • Rusu, Cristina;
    • Pânzaru, Monica;
    • Caba, Lavinia;
    • Popescu, Roxana;
    • Gorduza, Eusebiu Vlad
    Publication type:
    Case Study
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    Australian guidelines for the management of children with achondroplasia.

    Published in:
    Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290
    By:
    • Tofts, Louise J;
    • Armstrong, Jennifer A;
    • Broley, Stephanie;
    • Carroll, Theresa;
    • Ireland, Penelope J;
    • Koo, Minna;
    • Langdon, Katherine;
    • McGregor, Lesley;
    • McKenzie, Fiona;
    • Mehta, Divyesh;
    • Savarirayan, Ravi;
    • Tate, Tracy;
    • Wesley, Alison;
    • Zankl, Andreas;
    • Jenner, Maree;
    • Eyles, Marta;
    • Pacey, Verity
    Publication type:
    Article
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    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

    Published in:
    2021
    By:
    • Savarirayan, Ravi;
    • Tunkel, David E.;
    • Sterni, Laura M.;
    • Bober, Michael B.;
    • Cho, Tae-Joon;
    • Goldberg, Michael J.;
    • Hoover-Fong, Julie;
    • Irving, Melita;
    • Kamps, Shawn E.;
    • Mackenzie, William G.;
    • Raggio, Cathleen;
    • Spencer, Samantha A.;
    • Bompadre, Viviana;
    • White, Klane K.;
    • on behalf of the Skeletal Dysplasia Management Consortium;
    • on behalfof the Skeletal Dysplasia Management Consortium
    Publication type:
    journal article
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