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24  Articles
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Duplications of 1q concomitant with other chromosomal deletions are rare conditions in association with compound phenotypes. We present a case with a duplication of 1q42.13-q44 and a deletion at 14q32.33 and perform a comprehensive review on relevant case... see more

We report on a newborn female infant with a unique ring chromosome 13. Prenatal findings include intrauterine growth restriction (IUGR); ventricular septal defect (VSD), overriding aorta, and pulmonary stenosis. Postnatal examination found mild dysmorphic... see more

We report on a newborn female infant with a unique ring chromosome 13. Prenatal findings include intrauterine growth restriction (IUGR); ventricular septal defect (VSD), overriding aorta, and pulmonary stenosis. Postnatal examination found mild dysmorphic... see more

We report prenatal diagnosis of two affected males with an Xq26.1-q26.3 duplication from a mother with gonadal mosaicism. The first affected pregnancy was referred by ultrasound observed intrauterine growth retardation and abnormal cerebellar anatomy. Chr... see more

AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first... see more

Human CYPs are important in physiology, drug metabolism, and pathogenesis of certain diseases, and there is a strong need to explore the genetic variations and regulatory mechanisms of these enzymes. Mutations in CYP genes leading to deficiency in the enz... see more

Oculo-auriculo-vertebral Spectrum (OAVS), also known as Craniofacial Microsomia or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addi... see more


   This study aimed to examine the form, function, and meaning of Balinese expressions from the perspective of systemic functional linguistic theory (SFL). This study used a phenomenological-based approach. The data consisted of 51 stanzas and e... see more

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