Browsing by AJOU Author : 김현주
Showing results 38 to 51 of 51
Pub Year | | Title | Author(s) |
2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 정선용 |
2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
2007 | | National survey for genetic counseling and demands for Professional genetic counselor | 김현주, 정윤석 |
2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
2013 | | Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease | 김현주, 정선용 |
2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
2004 | | Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. | 김선용, 김현주, 방오영, 이필휴, 허균 |
2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
2011 | | Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome | 김현주 |
1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
2005 | | The effect of relaxation therapy on patient's pain following a total knee replacement | 김현주 |
2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
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