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아주대학교 의학문헌정보센터
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Browsing "School of Medicine / Graduate School of Medicine" by Journal : American journal of medical genetics. Part A
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Showing results 1 to 17 of 17
Pub Year
Title
AJOU Author(s)
2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
김옥화
2012
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II
손영배
2011
Axial spondylometaphyseal dysplasia: additional reports.
김옥화
2013
Clinical 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
2015
Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
손영배
2012
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation
손영배
2012
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature
손영배
2013
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
손영배
2013
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
손영배
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