(FM) Pediatría
Departamento académico
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)
2024
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L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study
Brain, Vol. 147, Núm. 5, pp. 1653-1666
2023
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Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679
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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Pediatric Neurology, Vol. 144, pp. 11-15
2017
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A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis
Gastric Cancer, Vol. 20, Núm. 6, pp. 998-1003
2016
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Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
Nature Communications, Vol. 7
2015
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Characterization of large structural genetic mosaicism in human autosomes
American Journal of Human Genetics, Vol. 96, Núm. 3, pp. 487-497
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Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656