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아주대학교 의학문헌정보센터
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Showing results 1 to 2 of 2
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2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
김옥화
,
정윤석
2012
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence
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아주대학교 의학문헌정보센터
