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  1. 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

  2. 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

  3. 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

  4. 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

  5. Maghnie, Mohamad [Author]; Semler, Jörg Oliver [Author]; Guillen-Navarro, Encarna [Author]; Selicorni, Angelo [Author]; Heath, Karen E. [Author]; Haeusler, Gabriele [Author]; Hagenäs, Lars [Author]; Merker, Andrea [Author]; Leiva-Gea, Antonio [Author]; González, Vanesa López [Author]; Raimann, Adalbert [Author]; Rehberg, Mirko [Author]; Santos-Simarro, Fernando [Author]; Ertl, Diana-Alexandra [Author]; Gregersen, Pernille Axél [Author]; Onesimo, Roberta [Author]; Landfeldt, Erik [Author]; Jarrett, James [Author]; Quinn, Jennifer [Author]; Rowell, Richard [Author]; Pimenta, Jeanne [Author]; Cohen, Shelda [Author]; Butt, Thomas [Author]; Shediac, Renée [Author]; [...]

    Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study

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    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 56

  6. 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

  7. Cruz, Raquel [Author]; Diz-de Almeida, Silvia [Author]; Heredia, Miguel López de [Author]; Quintela, Inés [Author]; Ceballos, Francisco C. [Author]; Pita, Guillermo [Author]; Lorenzo-Salazar, José M. [Author]; González-Montelongo, Rafaela [Author]; Gago-Domínguez, Manuela [Author]; Porras, Marta Sevilla [Author]; Castaño, Jair Antonio Tenorio [Author]; Nevado, Julian [Author]; Aguado, Jose Maria [Author]; Aguilar, Carlos [Author]; Aguilera-Albesa, Sergio [Author]; Almadana, Virginia [Author]; Almoguera, Berta [Author]; Alvarez, Nuria [Author]; Andreu-Bernabeu, Álvaro [Author]; Arana-Arri, Eunate [Author]; Arango, Celso [Author]; Arranz, María J. [Author]; Artiga, Maria-Jesus [Author]; Baptista-Rosas, Raúl C. [Author]; [...]

    Novel genes and sex differences in COVID-19 severity

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    2022

    Published in: Human molecular genetics ; 31(2022), 22, Seite 3789-3806

  8. Glóver López, Guillermo; Guillén Navarro, Encarna

    Síndrome X frágil

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    Viguera Editores SLU, 2006

    Published in: Revista de Neurología, 42 (2006) S01, Seite S051

  9. López‐Expósito, Isabel; Bafalliu, Juan Antonio; Santos, Mónica; Fuster, Carme; Puche‐Mira, Alberto; GuillénNavarro, Encarna

    Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

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    Wiley, 2008

    Published in: American Journal of Medical Genetics Part A, 146A (2008) 9, Seite 1190-1194

  10. Martínez-Lage, Juan F.; Ruiz-Espejo, Antonio; Guillén-Navarro, Encarna; Almagro, María-José

    Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I : Case report : Case report

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    Journal of Neurosurgery Publishing Group (JNSPG), 2008

    Published in: Journal of Neurosurgery, 109 (2008) 4, Seite 746-750