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Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays.
Clinical utility of the X-chromosome array.
Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.