Browsing "Medical Genetics" by Journal : Journal of genetic medicine

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Showing results 10 to 18 of 18

Pub YearTitleAuthor(s)
2013Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases손영배, 임신영, 정윤석
2013Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH손영배
2008Molecular diagnosis of fragile X syndrome in a female child김현주, 정선용
2007National survey for genetic counseling and demands for Professional genetic counselor김현주, 정윤석
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2007Spinocerebellar ataxia 7 (SCA7)김현주, 정선용
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2007The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome김현주
2011Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis윤수한, 정선용
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