Maria Juliana
Ballesta Martinez
Asociado Ciencias de la Salud
Hospital Universitario Virgen del Rocío
Sevilla, EspañaHospital Universitario Virgen del Rocío -ko ikertzaileekin lankidetzan egindako argitalpenak (5)
2024
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624
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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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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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
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1