Monochorionic dizygotic twins with discordant sex and confined blood chimerism
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family
Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study
