Showing 1 - 12 results of 12 for search 'Encarna Guillen-Navarro', query time: 0.03s
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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
Published 2023-02-01
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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
Published 2023-07-01
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Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia by Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K. Grange, Mary E. Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke, Encarna Guillén-Navarro, Sigrun Maier-Wohlfart, Athmane Bouroubi, Florence Porte
Published 2023-01-01
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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment by Atilano Carcavilla, Ana Cambra, José L. Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquieta
Published 2023-07-01
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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
Published 2022-12-01
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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
Published 2023-07-01
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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
Published 2023-10-01
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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to <i>CDKN1C</i> Pathogenic Variants by Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, Leonardo Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén-Navarro, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
Published 2022-08-01
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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
Published 2023-03-01
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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
Published 2023-06-01
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Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature by Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
Published 2023-05-01
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12
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> by Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano
Published 2022-07-01
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