(FM) Pediatría
Departamento académico
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University of Innsbruck
Innsbruck, AustriaPublicaciones en colaboración con investigadores/as de University of Innsbruck (3)
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
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
2017
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1