(FM) Pediatría
Departamento académico
Mayo Clinic
Rochester, Estados UnidosPublicacións en colaboración con investigadores/as de Mayo Clinic (5)
2020
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Fenfluramine for Treatment-Resistant Seizures in Patients with Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial
JAMA Neurology, Vol. 77, Núm. 3, pp. 300-308
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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Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types
Journal of the National Cancer Institute, Vol. 107, Núm. 12
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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
2014
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Human Molecular Genetics, Vol. 23, Núm. 24, pp. 6616-6633