Medical Genetics197

Pub YearTitleAJOU
Author
200716q-linked autosomal dominant cerebellar ataxia in a Korean family.이필휴정선용,김현주
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중정선용,양시영
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.정선용김현주,김유찬
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배정윤석
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function안소연손영배,정윤석
2010A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation정성현한재호,정선용강석윤,이현우최진혁,박준성
2007A Case of Down`s Syndrome with Thyrotoxic Crisis김현주김혜진,김대중이관우,정윤석
2007A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.김혜진김대중,이관우정선용,김현주정윤석
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 Gene김혜진정윤석,이관우정선용,김현주김대중
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes송형근손영배,최용준정윤석
2008A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene김현주김미란,주희재정윤석
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱손영배,정선용
2009A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia고정민곽규성,김현주
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.정선용김현주,김옥화
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2015A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.임신영정선용
2009A Review on Professional non-MD Genetic Counselors for Education and Accreditation in Korea김현주
2009A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea김현주
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