Fundación Pública Galega de Medicina Xenómica
Research center
Hospital for Sick Children
Toronto, CanadáPublications in collaboration with researchers from Hospital for Sick Children (7)
2024
2020
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
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Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)
Nature Neuroscience
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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
Nature Communications, Vol. 11, Núm. 1
2017
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224
2014
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics, Vol. 46, Núm. 8, pp. 826-836