Medical Genetics201

Pub YearTitleAuthor(s)
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.김현주, 이필휴, 정선용
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중, 양시영, 정선용
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.김유찬, 김현주, 정선용
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배, 정윤석
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function손영배, 안소연, 정윤석
2010A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation강석윤, 박준성, 이현우, 정선용, 정성현, 최진혁, 한재호
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김대중, 김현주, 김혜진, 이관우, 정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배, 장주영
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김미란, 김현주, 정윤석, 주희재
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
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 Dysplasia고정민, 곽규성, 김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
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
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