Pediatría
Servicio
Hospital Universitario de la Princesa
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de la Princesa (4)
2021
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674
2020
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Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey
Respiratory Medicine, Vol. 170
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268
2011
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Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188