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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum 睡眠呼吸障碍在软骨发育不全中的管理：欧洲软骨发育不全论坛的指导原则 Fauroux, Brigitte; Alsayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Boon, Mieke; Cormier-Daire, Valerie; Fredwall, Svein; Guillen-Navarro, Encarna; Irving, Melita; Kunkel, Philip; Madureira, Nuria; Maghnie, Mohamad; Milerad, Josef; Mohnike, Klaus; Mortier, Geert; Nobili, Lino; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B. 分享 收藏
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Recommendations for management of infants and young children with achondroplasia: Does clinical practice align? Guillen-Navarro, Encarna; Alsayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Fredwall, Svein; Irving, Melita; Kunkel, Philip; Lampe, Christian; Lausch, Ekkehart; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B. 分享 收藏
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J. 分享 收藏
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD Vendrell, Xavier; Abuli, Anna; Serra, Clara; Guillen, Juan Jose; Rueda, Joaquin; Garcia-Planells, Javier; Santos-Simarro, Fernando; Quiroga, Ramiro; Abellan, Fernando; Oancea-Ionescu, Raluca; Guillen-Navarro, Encarna 分享 收藏
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia Fredwall, Svein; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Guillen-Navarro, Encarna; Innig, Florian; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B.; Irving, Melita 分享 收藏
Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial Kuter, David J.; Bonkovsky, Herbert L.; Monroy, Susana; Ross, Gayle; Guillen-Navarro, Encarna; Cappellini, Maria Domenica; Minder, Anna-Elisabeth; Hother-Nielsen, Ole; Ventura, Paolo; Jia, Gang; Sweetser, Marianne T.; Thapar, Manish 分享 收藏
A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain) 穆尔西亚 (西班牙) 镰状细胞病的新生儿筛查计划 Sanchez-Villalobos, Maria; Banos, Eulalia Campos; Fita, Maria Jesus Juan; Mellado, Jose Maria Egea; Gallego, Inmaculada Gonzalez; Videla, Asuncion Beltran; Piqueras, Mercedes Berenguer; Cortes, Mar Bermudez; Jimenez, Jose Maria Moraleda; Navarro, Encarna Guillen; Fierrez, Eduardo Salido; Perez-Oliva, Ana B. 分享 收藏
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment Carcavilla, Atilano; Cambra, Ana; Santome, Jose L.; Seidel, Veronica; Cruz, Jaime; Alonso, Milagros; Pozo, Jesus; Valenzuela, Irene; Guillen-Navarro, Encarna; Santos-Simarro, Fernando; Gonzalez-Casado, Isabel; Rodriguez, Amparo; Medrano, Constancio; Lopez-Siguero, Juan Pedro; Ezquieta, Begona 分享 收藏
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fredwall, Svein; Guillen-Navarro, Encarna; Hoyer-Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B. 分享 收藏
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Real-world evidence in achondroplasia: considerations for a standardized data set 软骨发育不全的真实世界证据: 标准化数据集的考虑 Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola; Alves, Ines; AlSayed, Moeenaldeen; Appelman-Dijkstra, Natasha M.; Baujat, Genevieve; Ben-Omran, Tawfeg; Breyer, Sandra; Cormier-Daire, Valerie; Gregersen, Pernille Axel; Guillen-Navarro, Encarna; Hoegler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati; Cohen, Shelda; Pimenta, Jeanne; Selicorni, Angelo; Semler, J. Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita 分享 收藏
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study Maghnie, Mohamad; Semler, Oliver; Guillen-Navarro, Encarna; Selicorni, Angelo; Heath, Karen E.; Haeusler, Gabriele; Hagenaes, Lars; Merker, Andrea; Leiva-Gea, Antonio; Lopez Gonzalez, Vanesa; Raimann, Adalbert; Rehberg, Mirko; Santos-Simarro, Fernando; Ertl, Diana-Alexandra; Gregersen, Pernille Axel; Onesimo, Roberta; Landfeldt, Erik; Jarrett, James; Quinn, Jennifer; Rowell, Richard; Pimenta, Jeanne; Cohen, Shelda; Butt, Thomas; Shediac, Renee; Mukherjee, Swati; Mohnike, Klaus 分享 收藏
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study Lopez-Rodriguez, Rosario; Ruiz-Hornillos, Javier; Corton, Marta; Almoguera, Berta; Minguez, Pablo; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Ondo, Lorena; Martinez-Ramas, Andrea; Fernandez-Caballero, Lidia; Carlos Taracido-Fernandez, Juan; Herrero-Gonzalez, Antonio; Mahillo, Ignacio; Paz-Artal, Estela; Guillen-Navarro, Encarna; Ayuso, Carmen 分享 收藏
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years Del Pozo-Valero, Marta; Corton, Marta; Lopez-Rodriguez, Rosario; Mahillo-Fernandez, Ignacio; Ruiz-Hornillos, Javier; Minguez, Pablo; Villaverde, Cristina; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Paz-Artal, Estela; Guillen-Navarro, Encarna; Almoguera, Berta; Ayuso, Carmen 分享 收藏
Optimising care and follow-up of adults with achondroplasia Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.; Wright, Michael 分享 收藏
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations 优化欧洲软骨发育不全的诊断和转诊: 欧洲软骨发育不全论坛最佳实践建议 Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus 分享 收藏
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 Lopez-Rodriguez, Rosario; del Pozo-Valero, Marta; Corton, Marta; Minguez, Pablo; Ruiz-Hornillos, Javier; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Villaverde, Cristina; Nunez-Moreno, Gonzalo; Romero, Raquel; Paz-Artal, Estela; Guillen-Navarro, Encarna; Almoguera, Berta; Ayuso, Carmen 分享 收藏
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