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Publicaciones en la fuente ORPHANET JOURNAL OF RARE DISEASES

Tipo Año Título Fuente
Artículo2022Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patientsORPHANET JOURNAL OF RARE DISEASES
Artículo2021Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohortORPHANET JOURNAL OF RARE DISEASES
Revisión2021Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapyORPHANET JOURNAL OF RARE DISEASES
Artículo2021Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variantsORPHANET JOURNAL OF RARE DISEASES
Letter2021RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancerORPHANET JOURNAL OF RARE DISEASES
Artículo2020Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registryORPHANET JOURNAL OF RARE DISEASES
Artículo2019Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registryORPHANET JOURNAL OF RARE DISEASES
Revisión2018Alpha-1 antitrypsin deficiency: Outstanding questions and future directionsORPHANET JOURNAL OF RARE DISEASES
Artículo2015Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort studyORPHANET JOURNAL OF RARE DISEASES
Artículo2013Pathways systematically associated to Hirschsprung's diseaseORPHANET JOURNAL OF RARE DISEASES
Artículo2012Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's diseaseORPHANET JOURNAL OF RARE DISEASES