Nutrient sulfate is essential for numerous physiological functions in mammalian growth and
development. Accordingly, disruptions to any of the molecular processes that maintain the …

초록 염색체마이크로어레이 검사의 활용으로 산전진단을 포함한 선천성 이상에서 임상 진료의
질이 향상될 수 있다. 검사실은 염색체마이크로어레이 검사의 장단점과 목적을 잘 이해해야 …

Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA
(cfDNA) and has been widely applied, with highly accurate results for detecting foetal …

Background Non‐invasive prenatal testing (NIPT) is extensively used in the detection of fetal
trisomies 21, 18, and 13, which is promptly becoming a common clinical practice …

Purpose The 12q terminal duplication is a chromosomal structural abnormality that has been
rarely reported. The common clinical manifestations include intellectual disability and …

The genetic basis of congenital mental retardation includes chromosomal anomalies and
single gene mutations. In addition to chromosome microarray analysis, next‑generation …

Pituitary adenylate cyclase-activated polypeptide was discovered as a peptide highly
concentrated in the hypothalamus, via screening of hypothalamic extracts for their ability to …

Introduction: syndrome 18q-is considered a rare disease and is the second most common
syndrome that involves chromosome 18. The objective of this report is to describe the …

Zu den aktuell am seltensten zu beobachteten genetischen Gründen einer
Innenohrschwerhörigkeit mit einer geistigen Beeinträchtigung gehört das 7q …