HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosPublicaciones en colaboración con investigadores/as de Children's Hospital of Philadelphia (6)
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
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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
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The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
American Journal of Medical Genetics, Part A, Vol. 182, Núm. 9, pp. 2058-2067
2015
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626