Investigación sobre Anomalías Congénitas

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry. Orphanet Journal Of Rare Diseases. 2022 Nov 17; 17(1)

Benito-Lozano J, López-Villalba B, Arias-Merino G, De la Paz MP, Alonso-Ferreira, V.

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations. International Journal Of Environmental Research And Public Health. 2023 Feb 28; 20(5), 4374

Gallego E, Arias-Merino G, Sánchez-Díaz G, Villaverde-Hueso A, De la Paz, MP, Alonso-Ferreira V.

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study. Health Sci Rep. 2023 Mar 2;6(3):e1143

Magán-Maganto M, Canal-Bedia R, Bejarano-Martín Á, Martín-Cilleros MV, Hernández-Fabián A, Calvarro-Castañeda AL, Roeyers H, Jenaro-Río C, Posada de la Paz M.

PUBMED DOI

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023 Mar 3;4(2):100186

Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S.

PUBMED DOI

Investigación