Bioquímica y Biología Molecular y Fisiología
Departamento
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (9)
2020
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Multiple familial trichoepitheliomas: Ultrasonographic findings
Skin Research and Technology
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
2018
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Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series
British Journal of Dermatology, Vol. 179, Núm. 4, pp. 933-939
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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome
British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206
2017
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A case of mosaicism in ectodermal dysplasia–skin fragility syndrome
British Journal of Dermatology
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Exercise Intervention in Pediatric Patients with Solid Tumors: The Physical Activity in Pediatric Cancer Trial
Medicine and Science in Sports and Exercise, Vol. 49, Núm. 2, pp. 223-230
2014
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Early-onset acral basal cell carcinomas in Gorlin syndrome
British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229
2013
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Molecular evidence of type 2 mosaicism in Gorlin syndrome
British Journal of Dermatology, Vol. 169, Núm. 6, pp. 1342-1345
2011
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics, Vol. 12, Núm. 3, pp. 183-191