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아주대학교 의학문헌정보센터
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Browsing "Journal Papers" by Journal : American journal of medical genetics. Part A
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Showing results 10 to 17 of 17
Pub Year
Title
Author(s)
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
2011
Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.
김옥화
2012
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases
손영배
2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
김옥화
2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
김옥화
2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
김옥화
2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
김옥화
1
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아주대학교 의학문헌정보센터
