Impact of rare diseases in oral health

por Molina-García, Ana, Castellanos-Cosano, Lizett, Machuca-Portillo, Guillermo, Posada-de la Paz, Manuel
Publicado 2016

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

por Taruscio, Domenica, Mollo, Emanuela, Gainotti, Sabina, Posada de la Paz, Manuel, Bianchi, Fabrizio, Vittozzi, Luciano
Publicado 2014

Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984–2016)

por Sánchez-Díaz, Germán, Escobar, Francisco, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2019

Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria

por Garcia Primo, Patricia, Weber, Christoph, Posada de la Paz, Manuel, Fellinger, Johannes, Dirmhirn, Anna, Holzinger, Daniel
Publicado 2020

Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire

por Villar Hernández, Alvaro Rafael, Molero Alonso, Fernando, Aguado Marín, Álvaro Jesús, Posada de la Paz, Manuel
Publicado 2022

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

por Alonso-Ferreira, Verónica, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Bermejo-Sánchez, Eva
Publicado 2018

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

por Benito-Lozano, Juan, López-Villalba, Blanca, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2022

Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain

por Sánchez-Díaz, Germán, Escobar, Francisco, Badland, Hannah, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2018

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations

por Gallego, Elisa, Arias-Merino, Greta, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2023

Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations

por Villaverde-Hueso, Ana, Sánchez-Díaz, Germán, Molina-Cabrero, Francisco J., Gallego, Elisa, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2019

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

por Llamosas-Falcón, Laura, Bermejo-Sánchez, Eva, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2019

¿Hay lugar en atención primaria para las enfermedades poco frecuentes? El caso de la fibrodisplasia osificante progresiva

por Morales-Piga, Antonio, García Ribes, Miguel, Arribas Álvaro, Pilar, Casado Álvaro, Carlos, Posada de La Paz, Manuel, Bachiller-Corral, Javier
Publicado 2013

A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain

por Llamosas-Falcón, Laura, Sánchez-Díaz, Germán, Gallego, Elisa, Villaverde-Hueso, Ana, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2022

Psychosocial impact at the time of a rare disease diagnosis

por Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Arconada-López, Beatriz, Ruiz-García, Begoña, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2023

Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

por Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Ancochea-Díaz, Alba, Aparicio-García, Aitor, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Publicado 2022

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross‐sectional study

por 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
Publicado 2023

Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe

por Angelis, Aris, Kanavos, Panos, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Brodszky, Valentin, von der Schulenburg, Johann Matthias Graf, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni
Publicado 2016

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

por Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna
Publicado 2020

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

por 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
Publicado 2018

Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories

por Lermen, Dominik, Gwinner, Frederik, Bartel-Steinbach, Martina, Mueller, Sabine C., Habermann, Jens K., Balwir, Matharoo-Ball, Smits, Elke, Virgolino, Ana, Fiddicke, Ulrike, Berglund, Marika, Åkesson, Agneta, Bergstrom, Anna, Leander, Karin, Horvat, Milena, Snoj Tratnik, Janja, Posada de la Paz, Manuel, Castaño Calvo, Argelia, Esteban López, Marta, von Briesen, Hagen, Zimmermann, Heiko, Kolossa-Gehring, Marike
Publicado 2020