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아주대학교 의학문헌정보센터
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Showing results 1 to 6 of 6
Pub Year
Title
Author(s)
2013
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
손영배
,
정선용
,
진현석
2014
First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
손영배
2013
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
정윤석
,
진현석
2017
Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies
김정현
2014
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
손영배
,
정선용
2012
Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations
박동하
,
윤수한
,
정선용
1
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아주대학교 의학문헌정보센터
