Expert consensus for the management of patients with achondroplasia in treatment with vosoritide by Ana-Coral Barreda-Bonis, Josep Maria de Bergua Domingo, Enrique Galán-Gómez, Encarna Guillén-Navarro, Isabel Leiva-Gea, Isolina Riaño-Galán

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Dental Phenotype with Minor Ectodermal Symptoms Suggestive of <i>WNT10A</i> Deficiency by Victoria-Eugenia García-Martínez, Ximo Galiana-Vallés, Otilia Zomeño-Alcalá, Raquel Rodríguez-López, Carmen Llena, María del Carmen Martínez-Romero, Encarna Guillén-Navarro

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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice by María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike

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Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento by Antonio Leiva Gea, María F. Martos Lirio, Ana Coral Barreda Bonis, Silvia Marín del Barrio, Karen E. Heath, Purificacion Marín Reina, Encarna Guillén Navarro, Fernando Santos Simarro, Isolina Riaño Galán, Diego Yeste Fernández, Isabel Leiva-Gea

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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis by Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

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A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain) by María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B. Pérez-Oliva

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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor by María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study by Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

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Real-world evidence in achondroplasia: considerations for a standardized data set by Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

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Novel risk loci for COVID-19 hospitalization among admixed American populations by Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González-Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda- Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos AC Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Rocío Eirós, María Carmen Fariñas, María J Fernandez-Nestosa, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Manuela Gago-Dominguez, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Anna González-Neira, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney PC Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mellina Pinsach-Abuin, Guillermo Pita, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz-Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez, Luis Miguel Real, SCOURGE Cohort Group, Encarna Guillen-Navarro, Carmen Ayuso, Esteban Parra, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo

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