Maria Juliana
Ballesta Martinez
Asociado Ciencias de la Salud
Instituto de Salud Carlos III
Madrid, EspañaInstituto de Salud Carlos III -ko ikertzaileekin lankidetzan egindako argitalpenak (13)
2023
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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1
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
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Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Human Mutation, Vol. 41, Núm. 1, pp. 265-276
2019
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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
Human Genetics, Vol. 138, Núm. 8-9, pp. 1027-1042
2016
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Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence
Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115
2015
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Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 786-790
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Schinzel-Giedion syndrome: A new mutation in SETBP1
Anales de Pediatria, Vol. 82, Núm. 1, pp. e12-e16
2014
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Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement
Genomics, Vol. 103, Núm. 4, pp. 288-291
2012
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449