(FM) Pediatría
Departamento académico
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs 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