Browsing by Keyword : Abnormalities, Multiple

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Showing results 1 to 15 of 15

Pub YearTitleAJOU Author(s)
1997Atypical 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
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.김성환, 박문성, 손영배, 이장훈
2018Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis김상현, 나은우, 박성훈, 임신영
2000Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome.원제환
1998Extensive form of aplasia cutis congenita: a new syndrome?김행수, 박문성, 한시훈, 홍창호
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2011Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.김옥화
2013Is craniofacial asymmetry progressive in untreated congenital muscular torticollis?박명철, 이일재, 임신영
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
2010Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.고정민, 배기수
2021Posterior lung herniation in pulmonary agenesis and aplasia: Chest radiograph and cross-sectional imaging correlation박지은
2004Risk factor for extrahepatic bile duct cancer in patients with anomalous pancreaticobiliary ductal union.김명욱, 김욱환, 김진홍, 김홍, 유병무, 이국종, 정용식
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
1998Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations.김옥화, 서정호, 유호민
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