Browsing "Medical Genetics" by Keyword : Abnormalities, Multiple

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Showing results 1 to 5 of 5

Pub YearTitleAuthor(s)
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.김성환, 박문성, 손영배, 이장훈
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
2010Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.고정민, 배기수
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