ALBERTO
FERNANDEZ JAEN
PROFESOR
University Medical Center Utrecht
Utrecht, HolandaPublicaciones en colaboración con investigadores/as de University Medical Center Utrecht (3)
2020
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
American Journal of Human Genetics, Vol. 107, Núm. 3, pp. 499-513
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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
2019
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Human Mutation, Vol. 40, Núm. 12, pp. 2270-2285