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  1. NiMhurchadha, Sinead [Author]; Butler, Karen [Author]; Argent, Rob [Author]; Palm, Katja [Author]; Baujat, Genevieve [Author]; Cormier-Daire, Valerie [Author]; Mohnike, Klaus [Author]

    Parents' experience of administering vosoritide : a daily injectable for children with achondroplasia

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    2023

    Published in: Advances in therapy ; 40(2023), 5, Seite 2457-2470

  2. Savarirayan, Ravi [Author]; Baratela, Wagner [Author]; Butt, Thomas [Author]; Cormier-Daire, Valérie [Author]; Irving, Melita [Author]; Miller, Bradley [Author]; Mohnike, Klaus [Author]; Ozono, Keiichi [Author]; Rosenfeld, Ron [Author]; Selicorni, Angelo [Author]; Thompson, Dominic [Author]; White, Klane K. [Author]; Wright, Michael [Author]; Fredwall, Svein O. [Author]

    Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide : a modified Delphi study

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    2022

    Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 224

  3. Fredwall, Svein [Author]; Allum, Yana [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valerie [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Wright, Michael [Author]

    Optimising care and follow-up of adults with achondroplasia

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    2022

    Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 318

  4. Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Bengoa, Joana [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Fredwall, Svein [Author]; Garel, Catherine [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Mohnike, Klaus [Author]

    Optimising the diagnosis and referral of achondroplasia in Europe : European Achondroplasia Forum best practice recommendations

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    2022

    Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 293

  5. Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Ben-Omran, Tawfeg [Author]; Sousa, Sérgio Bernardo de [Author]; Boero, Silvio [Author]; Fredwall, Svein O. [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Peijin, Zagorka [Author]; Mohnike, Klaus [Author]

    The first European consensus on principles of management for achondroplasia

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    2021

    Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 333

  6. Savarirayan, Ravi [Author]; Irving, Melita [Author]; Hoover-Fong, Julie [Author]; Bacino, Carlos A. [Author]; Ozono, Keiichi [Author]; Mohnike, Klaus [Author]; Cormier-Daire, Valerie [Author]; Leiva-Gea, Antonio [Author]; Alanay, Yasemin [Author]; Andrews, Mary [Author]; Crews, Chandler [Author]; Klafehn, Cristina [Author]; Jayaram, Kala [Author]; Jeha, George S. [Author]; Fisheleva, Elena [Author]; Huntsman-Labed, Alice [Author]; Day, Jonathan [Author]

    Vosoritide treatment accelerates bone growth in children with achondroplasia

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    2021

    Published in: Future Rare Diseases ; 1(2021), 3, Artikel-ID FRD14

  7. Irving, Melita [Author]; AlSayed, Moeenaldeen [Author]; Arundel, Paul [Author]; Baujat, Geneviève [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valérie [Author]; Fredwall, Svein [Author]; Guillen-Navarro, Encarna [Author]; Hoyer-Kuhn, Heike-Katharina [Author]; Kunkel, Philip Oskar Sean [Author]; Lampe, Christian Gerhard [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]

    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

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    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 219, Seite 1-8

  8. Alanay, Yasemin [Author]; Mohnike, Klaus [Author]; Nilsson, Ola [Author]; Alves, Inês [Author]; AlSayed, Moeenaldeen [Author]; Appelman-Dijkstra, Natasha M. [Author]; Baujat, Genevieve [Author]; Ben-Omran, Tawfeg [Author]; Breyer, Sandra Rafaela [Author]; Cormier-Daire, Valerie [Author]; Gregersen, Pernille Axél [Author]; Guillén-Navarro, Encarna [Author]; Högler, Wolfgang [Author]; Maghnie, Mohamad [Author]; Mukherjee, Swati [Author]; Cohen, Shelda [Author]; Pimenta, Jeanne [Author]; Selicorni, Angelo [Author]; Semler, Jörg Oliver [Author]; Sigaudy, Sabine [Author]; Popkov, Dmitry [Author]; Sabir, Ian [Author]; Noval, Susana [Author]; Sessa, Marco [Author];

    Real-world evidence in achondroplasia : considerations for a standardized data set

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    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 166

  9. Savarirayan, Ravi [Author]; Irving, Melita [Author]; Harmatz, Paul [Author]; Delgado, Borja [Author]; Wilcox, William R. [Author]; Philips, John [Author]; Owen, Natalie [Author]; Bacino, Carlos A. [Author]; Tofts, Louise [Author]; Charrow, Joel [Author]; Polgreen, Lynda E. [Author]; Hoover-Fong, Julie [Author]; Arundel, Paul [Author]; Ginebreda, Ignacio [Author]; Saal, Howard M. [Author]; Basel, Donald [Author]; Font, Rosendo Ullot [Author]; Ozono, Keiichi [Author]; Bober, Michael B. [Author]; Cormier-Daire, Valérie [Author]; Sang, Kim-Hanh Le Quan [Author]; Baujat, Genevieve [Author]; Alanay, Yasemin [Author]; Rutsch, Frank [Author]; [...]

    Growth parameters in children with achondroplasia : a 7-year, prospective, multinational, observational study

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    2022

    Published in: Genetics in medicine ; 24(2022), 12, Seite 2444-2452

  13. Huber, Celine; Cormier‐Daire, Valerie

    Ciliary disorder of the skeleton

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    Wiley, 2012

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics

  14. Baujat, Geneviève; Cormier-Daire, Valérie

    Sotos syndrome

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    Springer Science and Business Media LLC, 2007

    Published in: Orphanet Journal of Rare Diseases

  18. Cormier‐Daire, Valérie; Cohen,, M. Michael

    INTRODUCTION

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    Wiley, 2005

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics