Browsing "Journal Papers" by Journal : Journal of medical genetics

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Showing results 1 to 5 of 5

Pub YearTitleAuthor(s)
2010A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.김옥화
2011CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.김옥화
1998Extensive form of aplasia cutis congenita: a new syndrome?김행수, 박문성, 한시훈, 홍창호
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
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