HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Radboud University Nijmegen Medical Centre
Nimega, HolandaPublicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (5)
2022
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Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group
Pediatric Research, Vol. 91, Núm. 5, pp. 1069-1077
2021
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
American Journal of Human Genetics, Vol. 108, Núm. 6, pp. 1138-1150
2020
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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
2016
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Clinical delineation of the PACS1-related syndrome-Report on 19 patients
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 670-675