Browsing by Keyword : Nuclear Proteins/*genetics

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Showing results 1 to 5 of 5

Publication YearTitleAJOU
Author
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배진현석정선용
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.진현석정윤석
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배정선용
2012Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations정선용박동하윤수한
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