Publications by authors named "Manuel Posada-de-la-Paz"

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Spanish Validation of the Autism Spectrum Quotient for Children (AQ-Child-SV).
Clara J Fernández-Álvarez, Jo A Yon-Hernández, Dominika Zofia Wojcik, Agustín Huete, Álvaro Bejarano-Martín

J Autism Dev Disord· October 2025

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Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions.
María Del Carmen Sánchez-González, Rodrigo Sarmiento-Suárez, Laura Lee Cellai, Clément Moreau, Marcin Bartoszewicz

Health Res Policy Syst· October 2025

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek

Nat Genet· November 2024

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Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Alberto Lopez-de la Rosa, Juan J Telleria, Manuel Posada de la Paz, Isabel M Hermosilla-Gimeno, Miren Agurtzane Rivas

Orphanet J Rare Dis· June 2024

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Psychosocial impact at the time of a rare disease diagnosis.
Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, Beatriz Arconada-López, Begoña Ruiz-García

PLoS One· July 2023

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Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study.
María Magán-Maganto, Ricardo Canal-Bedia, Álvaro Bejarano-Martín, Maria Victoria Martín-Cilleros, Aránzazu Hernández-Fabián

Health Sci Rep· March 2023

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Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.
Elisa Gallego, Greta Arias-Merino, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz

Int J Environ Res Public Health· February 2023

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Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.
Quentin Guillon, Sophie Baduel, Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María MagÁn-Maganto

Autism· November 2022

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Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz, Verónica Alonso-Ferreira

Orphanet J Rare Dis· November 2022

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The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires.
Macarena Garrido-Estepa, Greta Arias-Merino, Verónica Alonso-Ferreira, Ana Villaverde-Hueso, Manuel Posada de la Paz

Qual Life Res· October 2022

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo

Hum Mutat· June 2022

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Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire.
Alvaro Rafael Villar Hernández, Fernando Molero Alonso, Álvaro Jesús Aguado Marín, Manuel Posada de la Paz

Int J Environ Res Public Health· June 2022

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Toxic oil syndrome: health-related quality-of-life assessment using the SF-36 Health Survey.
Manuel Posada de la Paz, Enrique Díaz-Guerra, Verónica Alonso-Ferreira, Ana Villaverde-Hueso, Greta Arias-Merino

Int J Epidemiol· May 2022

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Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.
Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, Alba Ancochea-Díaz, Aitor Aparicio-García

Int J Environ Res Public Health· May 2022

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Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study.
Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María Magán-Maganto, Aránzazu Hernández Fabián, Andrea Luz Calvarro Castañeda

J Autism Dev Disord· April 2022

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Correction to: Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study.
Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María Magán-Maganto, Aránzazu Hernández Fabián, Andrea Luz Calvarro Castañeda

J Autism Dev Disord· April 2022

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A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain.
Laura Llamosas-Falcón, Germán Sánchez-Díaz, Elisa Gallego, Ana Villaverde-Hueso, Greta Arias-Merino

Sci Rep· March 2022

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The ASDEU autism prevalence study in northern Spain.
Joaquin Fuentes, Ane Basurko, Irma Isasa, Isabel Galende, María Dolores Muguerza

Eur Child Adolesc Psychiatry· April 2021

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Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.
Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María Magán-Maganto, Clara Fernández-Álvarez, María Victoria Cilleros-Martín

J Autism Dev Disord· September 2020

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Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.
Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María Magán-Maganto, Clara Fernández-Álvarez, María Victoria Martín-Cilleros

J Autism Dev Disord· September 2020

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Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria.
Patricia Garcia Primo, Christoph Weber, Manuel Posada de la Paz, Johannes Fellinger, Anna Dirmhirn

Brain Sci· July 2020

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Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories.
Dominik Lermen, Frederik Gwinner, Martina Bartel-Steinbach, Sabine C Mueller, Jens K Habermann

Biopreserv Biobank· April 2020

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Manuel Posada-de-la-Paz

Orphanet J Rare Dis· February 2020

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Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years.
Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz

Orphanet J Rare Dis· April 2019

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Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984⁻2016).
Germán Sánchez-Díaz, Francisco Escobar, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso-Ferreira

Int J Environ Res Public Health· April 2019

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