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Browsing "Radiology" by Journal : American journal of medical genetics. Part A

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Showing results 1 to 10 of 10

Pub YearTitleAuthor(s)
2010A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.김옥화
2011Axial spondylometaphyseal dysplasia: additional reports.김옥화
2013Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.김옥화, 정윤석
2013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.김옥화
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2011Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.김옥화
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2010Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.김옥화
2012TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients김옥화
2011Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).김옥화
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