Works matching DE "ACHONDROPLASIA"

Results: 558
    1

    Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03853-7
    By:
    • Allegri, Anna Elsa Maria;
    • Bedeschi, Maria Francesca;
    • Bocchi, Maria Beatrice;
    • Camurri, Valentina;
    • Gonfiantini, Michaela Veronika;
    • Leoni, Chiara;
    • Mariani, Milena;
    • Palmacci, Osvaldo;
    • Porro, Matteo;
    • Riganti, Simone;
    • Tedesco, Caterina;
    • Rinaldi, Berardo;
    • Scarano, Emanuela;
    • Schiavariello, Concetta;
    • Selicorni, Angelo;
    • Stagi, Stefano;
    • Verdoni, Fabio;
    • Zampino, Giuseppe;
    • Maghnie, Mohamad;
    • Onesimo, Roberta
    Publication type:
    Article
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    Genetics.

    Published in:
    Indian Pediatrics, 2025, v. 62, n. 7, p. 549, doi. 10.1007/s13312-025-00092-8
    By:
    • Shriyan, Rhea
    Publication type:
    Article
    5

    Low bone density in achondroplasia.

    Published in:
    2014
    By:
    • Taşoğlu, Özlem;
    • Şahin Onat, Şule;
    • Yenigün, Didem;
    • Doğan Aslan, Meryem;
    • Nakipoğlu, Güldal;
    • Özgirgin, Neşe
    Publication type:
    Case Study
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    Achondroplasia current concept of orthopaedic management.

    Published in:
    Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 5, p. 461, doi. 10.1177/18632521241269340
    By:
    • Mindler, Gabriel T;
    • Stauffer, Alexandra;
    • Chiari, Catharina;
    • Mladenov, Kiril;
    • Horn, Joachim
    Publication type:
    Article
    11

    Paediatric orthopaedics through paintings.

    Published in:
    Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2018, v. 12, n. 6, p. 647, doi. 10.1302/1863-2548.12.180141
    By:
    • Camurcu, Y.;
    • Sofu, H.;
    • Ucpunar, H.;
    • Duman, S.;
    • Cobden, A.
    Publication type:
    Article
    12

    Arthroscopic knee anatomy in young achondroplasia patients.

    Published in:
    Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2017, v. 11, n. 3, p. 169, doi. 10.1302/1863-2548.11.160168
    By:
    • del Pilar Duque Orozco, M.;
    • Record, N. C.;
    • Rogers, K. J.;
    • Bober, M. B.;
    • Mackenzie, W. G.;
    • Atanda Jr., A.
    Publication type:
    Article
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    Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54839-1
    By:
    • Vanneste, Michiel;
    • Hoskens, Hanne;
    • Goovaerts, Seppe;
    • Matthews, Harold;
    • Devine, Jay;
    • Aponte, Jose D.;
    • Cole, Joanne;
    • Shriver, Mark;
    • Marazita, Mary L.;
    • Weinberg, Seth M.;
    • Walsh, Susan;
    • Richmond, Stephen;
    • Klein, Ophir D.;
    • Spritz, Richard A.;
    • Peeters, Hilde;
    • Hallgrímsson, Benedikt;
    • Claes, Peter
    Publication type:
    Article
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    Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: the Achondroplasia Personal Life Experience Scale (APLES).

    Published in:
    Disability & Rehabilitation, 2019, v. 41, n. 15, p. 1815, doi. 10.1080/09638288.2018.1447028
    By:
    • Bloemeke, Janika;
    • Sommer, Rachel;
    • Witt, Stefanie;
    • Dabs, Michaela;
    • Badia, Francisco Javier;
    • Bullinger, Monika;
    • Quitmann, Julia
    Publication type:
    Article
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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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    Letters to the Editor.

    Published in:
    2008
    By:
    • Pirgon, Ozgur;
    • Atabek, Mehmet Emre;
    • Sert, Ahmet
    Publication type:
    Letter
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    Who Is the Parent?

    Published in:
    Teaching Exceptional Children, 2016, v. 48, n. 3, p. 144, doi. 10.1177/0040059915605800
    By:
    • Losinski, Mickey;
    • Katsiyannis, Antonis;
    • White, Sherry;
    • Wiseman, Nicole
    Publication type:
    Article