syndromic相关论文
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndr......
Hirschsprung’s disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of......
<正>Congenital heart malformation(CHM)is the most common form of congenital human birth anomaly and the leading cause of......
Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional simulation.Traditiona......
Dear Editor:Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes......
Klippel-Feil syndrome(KFS) is defined by congenital cervical vertebral spine fusion and is seen with a wide spectrum of ......
Tooth agenesis and craniofacial morphology in preorthodontic children with and without morphological
AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromi......
非综合征性唇/腭裂患儿的听力研究唇/腭裂患儿由于咽鼓管解剖和/或功能的改变常可导致分泌性中耳炎。该研究为前瞻性多中心研究,旨......
Thrombotic microangiopathies(TMA) are microvascular occlusive disorders characterized by platelet aggregation and mechan......
The mitochondrial 12S rRNA has been shown to be the hot spot for mutations associated with both aminoglycoside-induced a......
Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preve
To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 mate......
Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof.......
Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Od
Aim To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. Methodo......
Social network analysis and modeling of cellphone-based syndromic surveillance data for ebola in Sie
Objective:To explore and visualize the connectivity of suspected Ebola cases and surveillance callers who used cellphone......
流行病学研究提示50%~70%的听力障碍与遗传因素相关[1~5],即为遗传性聋（表1）,其中,综合征型聋（syndromic hearing impairment,SHI）约占......
Enhanced Public Health Surveillance for the Sixth Worldwide Uchinanchu Festival Conducted by the Oki
Objective: The Okinawa prefectural government conducted enhanced surveillance for the Sixth Worldwide Uchinanchu Festiva......
Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional simulation.Traditional......
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Background: Total situs inversus, (also called situs transversus or oppositus) known as mirror image dextrocardia, is ch......
