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School of Medicine / Graduate School of Medicine
Medical Genetics
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Publication Year
Title
AJOU
Author
2007
16q-linked autosomal dominant cerebellar ataxia in a Korean family.
이필휴
,
정선용
,
김현주
2018
3'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis
강이중
,
정선용
,
양시영
2014
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
손영배
2009
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
고정민
2008
A case of Birt-Hogg-Dubé syndrome.
정선용
,
김현주
,
김유찬
2013
A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
손영배
,
정윤석
2012
A Case of CATCH22 Syndrome with Normal Parathyroid Function
안소연
,
손영배
,
정윤석
2010
A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation
정성현
,
한재호
,
정선용
,
강석윤
,
이현우
,
최진혁
,
박준성
2007
A Case of Down`s Syndrome with Thyrotoxic Crisis
김현주
,
김혜진
,
김대중
,
이관우
,
정윤석
2007
A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.
김혜진
,
김대중
,
이관우
,
정선용
,
김현주
,
정윤석
2014
A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation
손영배
,
장주영
2007
A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene
김혜진
,
정윤석
,
이관우
,
정선용
,
김현주
,
김대중
2017
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
송형근
,
손영배
,
최용준
,
정윤석
2008
A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene
김현주
,
김미란
,
주희재
,
정윤석
2014
A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
박상욱
,
손영배
,
정선용
2012
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene
손영배
2009
A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia
고정민
,
곽규성
,
김현주
2010
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
정선용
,
김현주
,
김옥화
2013
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
손영배
2015
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
손영배
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