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Article
A case of strangulated intestinal obstruction in which disease progression was recognized on ultrasonography: importance of “string-like structure”
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Article
Open AccessMolecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross...
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Article
Pulmonary annular motion velocity reflects right ventricular outflow tract function in children with surgically repaired congenital heart disease
Right ventricular (RV) dysfunction is generally evaluated using analyses of tricuspid annular motion. However, it represents only one aspect of RV performance. Whether measuring pulmonary annular motion veloci...
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Article
Open AccessNoninvasive assessment of pulmonary arterial capacitance by pulmonary annular motion velocity in children with ventricular septal defect
We hypothesized that longitudinal pulmonary arterial deformation during the cardiac cycle reflects pulmonary arterial capacitance. To examine this hypothesis, we assessed whether tissue Doppler-derived pulmona...
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Article
Open AccessDetection of 1p36 deletion by clinical exome-first diagnostic approach
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those obs...
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Article
Right ventricular thrombosis in two patients with pulmonary atresia with intact ventricular septum
Thrombosis was detected in the right ventricle 7 days after a bidirectional Glenn operation in a 1-year-old boy with pulmonary atresia with intact ventricular septum (PAIVS) and immediately before pulmonary va...
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Article
Subcellular localization of MURA and MURB proteins encoded by the maize MuDR transposon
MuDR controls transposition of the Mu transposable element family in Zea maysL. It produces two major transcripts: mudrA and mudrB. mudrA encodes the MURA transposase, but no specific function has been ascribed ...
