PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Universitat Autònoma de Barcelona
Barcelona, EspañaPublikationen in Zusammenarbeit mit Forschern von Universitat Autònoma de Barcelona (8)
2023
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106
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Immunisation schedule of the Spanish Association of Paediatrics: 2023 Recommendations
Anales de Pediatria, Vol. 98, Núm. 1, pp. 58.e1-58.e10
2022
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Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2019
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2013
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Application of FISH 7q in MDS patients without monosomy 7 or 7q deletion by conventional G-banding cytogenetics: Does -7/7q- detection by FISH have prognostic value?
Leukemia Research, Vol. 37, Núm. 4, pp. 416-421