Browsing by AJOU Author : 김현주

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Showing results 38 to 51 of 51

Pub YearTitleAuthor(s)
2008Molecular diagnosis of fragile X syndrome in a female child김현주, 정선용
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2007National survey for genetic counseling and demands for Professional genetic counselor김현주, 정윤석
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2013Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease김현주, 정선용
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2004Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.김선용, 김현주, 방오영, 이필휴, 허균
2011SCA in Korea and its regional distribution: a multicenter analysis.김현주, 용석우
2007Spinocerebellar ataxia 7 (SCA7)김현주, 정선용
2011Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome김현주
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2005The effect of relaxation therapy on patient's pain following a total knee replacement김현주
2007The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome김현주
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