The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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Journal Article
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Lopez-de la Rosa, Alberto, Telleria, Juan J, Posada de la Paz, Manuel, Hermosilla-Gimeno, Isabel M, Rivas, Miren Agurtzane, Gilabert, Raúl, Coco-Martín, Rosa M
Published in Orphanet journal of rare diseases (13.06.2024)
Published in Orphanet journal of rare diseases (13.06.2024)
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Journal Article
Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain
Sánchez-Díaz, Germán, Escobar, Francisco, Badland, Hannah, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (11.11.2018)
Published in International journal of environmental research and public health (11.11.2018)
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Journal Article
Screening for autism spectrum disorders: state of the art in Europe
García-Primo, Patricia, Hellendoorn, Annika, Charman, Tony, Roeyers, Herbert, Dereu, Mieke, Roge, Bernadette, Baduel, Sophie, Muratori, Filippo, Narzisi, Antonio, Van Daalen, Emma, Moilanen, Irma, de la Paz, Manuel Posada, Canal-Bedia, Ricardo
Published in European child & adolescent psychiatry (01.11.2014)
Published in European child & adolescent psychiatry (01.11.2014)
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Journal Article
A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain
Llamosas-Falcón, Laura, Sánchez-Díaz, Germán, Gallego, Elisa, Villaverde-Hueso, Ana, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in Scientific reports (08.03.2022)
Published in Scientific reports (08.03.2022)
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Journal Article
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire
Villar Hernández, Alvaro, Molero Alonso, Fernando, Aguado Marín, Álvaro, Posada de la Paz, Manuel
Published in International journal of environmental research and public health (09.06.2022)
Published in International journal of environmental research and public health (09.06.2022)
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Journal Article
Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations
Villaverde-Hueso, Ana, Sánchez-Díaz, Germán, Molina-Cabrero, Francisco J, Gallego, Elisa, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (04.01.2019)
Published in International journal of environmental research and public health (04.01.2019)
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Journal Article
A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies
Alonso-Ferreira, Verónica, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Bermejo-Sánchez, Eva
Published in International journal of environmental research and public health (10.08.2018)
Published in International journal of environmental research and public health (10.08.2018)
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Journal Article
Fabry Nephropathy: An Evidence-Based Narrative Review
del Pino, María, Andrés, Amado, Bernabéu, Ana Ávila, de Juan-Rivera, Joaquín, Fernández, Elvira, de Dios García Díaz, Juan, Hernández, Domingo, Luño, José, Fernández, Isabel Martínez, Paniagua, José, Posada de la Paz, Manuel, Rodríguez-Pérez, José Carlos, Santamaría, Rafael, Torra, Roser, Ambros, Joan Torras, Vidau, Pedro, Torregrosa, Josep-Vicent
Published in Kidney & blood pressure research (01.01.2018)
Published in Kidney & blood pressure research (01.01.2018)
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Journal Article
The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration
Taruscio, Domenica, Mollo, Emanuela, Gainotti, Sabina, Posada de la Paz, Manuel, Bianchi, Fabrizio, Vittozzi, Luciano
Published in Archives of public health = Archives belges de santé publique (13.10.2014)
Published in Archives of public health = Archives belges de santé publique (13.10.2014)
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Journal Article
Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria
Primo, Patricia Garcia, Weber, Christoph, de la Paz, Manuel Posada, Fellinger, Johannes, Dirmhirn, Anna, Holzinger, Daniel
Published in Brain sciences (01.07.2020)
Published in Brain sciences (01.07.2020)
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Journal Article
Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984⁻2016)
Sánchez-Díaz, Germán, Escobar, Francisco, Villaverde-Hueso, Ana, de la Paz, Manuel Posada, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (17.04.2019)
Published in International journal of environmental research and public health (17.04.2019)
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Journal Article
Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross‐sectional study
Magán‐Maganto, María, Canal‐Bedia, Ricardo, Bejarano‐Martín, Álvaro, Martín‐Cilleros, Maria Victoria, Hernández‐Fabián, Aránzazu, Calvarro‐Castañeda, Andrea Luz, Roeyers, Herbert, Jenaro‐Río, Cristina, Posada de la Paz, Manuel
Published in Health science reports (01.03.2023)
Published in Health science reports (01.03.2023)
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Journal Article
The Spanish Toxic Oil Syndrome 20 Years after Its Onset: A Multidisciplinary Review of Scientific Knowledge
Gelpí, Emilio, de la Paz, Manuel Posada, Terracini, Benedetto, Abaitua, Ignacio, de la Cámara, Agustín Gómez, Kilbourne, Edwin M., Lahoz, Carlos, Nemery, Bénoit, Philen, Rossanne M., Soldevilla, Luis, Tarkowski, Stanislaw
Published in Environmental health perspectives (01.05.2002)
Published in Environmental health perspectives (01.05.2002)
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Journal Article
Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations
Gallego, Elisa, Arias-Merino, Greta, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (28.02.2023)
Published in International journal of environmental research and public health (28.02.2023)
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Journal Article
Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Ancochea-Díaz, Alba, Aparicio-García, Aitor, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Published in International journal of environmental research and public health (26.05.2022)
Published in International journal of environmental research and public health (26.05.2022)
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Journal Article
Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives
Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, Magán-Maganto, María, Fernández-Álvarez, Clara, Cilleros-Martín, María Victoria, Sánchez-Gómez, María Cruz, García-Primo, Patricia, Rose-Sweeney, Mary, Boilson, Andrew, Linertová, Renata, Roeyers, Herbert, Van der Paelt, Sara, Schendel, Diana, Warberg, Christine, Cramer, Susanne, Narzisi, Antonio, Muratori, Filippo, Scattoni, María Luisa, Moilanen, Irma, Yliherva, Anneli, Saemundsen, Evald, Loa Jónsdóttir, Sigríður, Efrim-Budisteanu, Magdalena, Arghir, Aurora, Papuc, Sorina Mihaela, Vicente, Astrid, Rasga, Celia, Rogé, Bernadette, Guillon, Quentin, Baduel, Sophie, Kafka, Johanna Xenia, Poustka, Luise, Kothgassner, Oswald D., Kawa, Rafal, Pisula, Ewa, Sellers, Tracey, Posada de la Paz, Manuel
Published in Journal of autism and developmental disorders (01.09.2020)
Published in Journal of autism and developmental disorders (01.09.2020)
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Journal Article