HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Boston Children's Hospital
Boston, Estados UnidosPublicaciones en colaboración con investigadores/as de Boston Children's Hospital (2)
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
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