HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Johns Hopkins University School of Medicine
Baltimore, Estados UnidosPublicaciones en colaboración con investigadores/as de Johns Hopkins University School of Medicine (3)
2022
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884
2020
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The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
American Journal of Medical Genetics, Part A, Vol. 182, Núm. 9, pp. 2058-2067
2017
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Sodium intake and multiple sclerosis activity and progression in BENEFIT
Annals of Neurology, Vol. 82, Núm. 1, pp. 20-29