Paediatrics, Immunology, Obstetrics and Gynaecology, Nutrition and Bromatology, Psychiatry and History of Science
Department
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (15)
2024
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Pediatric Neurology, Vol. 155, pp. 8-17
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
PloS one, Vol. 18, Núm. 7, pp. e0287515
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Short stature and scoliosis: Revealing signs of ultrarare skeletal dysplasia
Anales de Pediatria
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Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Scientific Reports, Vol. 13, Núm. 1
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
2018
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy
International Journal of Molecular Sciences, Vol. 19, Núm. 2
2017
2014
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Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes
Medicina Clinica, Vol. 143, Núm. 1, pp. 25-28
2008
2007
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Utilidad de la radiografía de tórax en el soplo cardíacoa
Anales de Pediatria Continuada, Vol. 5, Núm. 5, pp. 289-293