ALBERTO
FERNANDEZ JAEN
PROFESOR
Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadores/as de Leiden University Medical Center (3)
2022
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Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome
Acta Physiologica, Vol. 235, Núm. 1
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