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아주대학교 의학문헌정보센터
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Showing results 1 to 8 of 8
Pub Year
Title
Author(s)
1997
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
김옥화
2010
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
김옥화
2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
김옥화
2013
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
김옥화
2014
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
김옥화
2012
PAPSS2 mutations cause autosomal recessive brachyolmia
김옥화
2011
Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.
김옥화
2010
TRPV4-pathy, a novel channelopathy affecting diverse systems.
김옥화
1
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아주대학교 의학문헌정보센터