ALBERTO
FERNANDEZ JAEN
PROFESOR
University of British Columbia
Vancouver, CanadáPublicaciones en colaboración con investigadores/as de University of British Columbia (4)
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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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
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