Medical Genetics190

Publication YearTitleAJOU
Author
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.이필휴정선용김현주
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중정선용양시영
2014A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.손영배
2009A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.고정민
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배정윤석
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function안소연손영배정윤석
2010A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation정성현한재호정선용강석윤이현우최진혁박준성
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김현주김혜진김대중이관우정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김혜진김대중이관우정선용김현주정윤석
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배장주영
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김혜진정윤석이관우정선용김현주김대중
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes송형근손영배최용준정윤석
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김현주김미란주희재정윤석
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱손영배정선용
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민곽규성김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.정선용김현주김옥화
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2015A 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
1 2 3 4 5 6 7 8 9 10

Browse