ALBERTO
FERNANDEZ JAEN
PROFESOR
University of Pennsylvania
Filadelfia, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Pennsylvania (3)
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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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Pediatric Neurology, Vol. 112, pp. 94-100
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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