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아주대학교 의학문헌정보센터
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Showing results 1 to 4 of 4
Pub Year
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AJOU Author(s)
2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
손영배
2015
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
손영배
2020
Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing
금창대
,
노정기
,
이해상
,
정선용
,
정재연
,
황진순
2013
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
김현주
,
손영배
,
정선용
1
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아주대학교 의학문헌정보센터
