HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Children's Hospital of Eastern Ontario
Ottawa, CanadáPublicaciones en colaboración con investigadores/as de Children's Hospital of Eastern Ontario (4)
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
2021
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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Clinical Genetics, Vol. 100, Núm. 4, pp. 405-411
2020
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112