Results 111 to 120 of about 10,626 (165)

[Evaluating the performance of generative AI in assisting the differential diagnosis of weight loss]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban
Liu Y, Zhang Y, Cai D, Ren J.
europepmc   +1 more source

家系全外显子组检测在胎儿股骨短小中的诊断应用

Zhongshan Daxue xuebao. Yixue kexue ban
目的为了提升胎儿股骨短小（FL）的遗传学病因诊断水平，探讨全外显子组测序（WES）与染色体异常检测联合应用在产前诊断中的价值。方法选取2023年11月至2025年5月于中山大学孙逸仙纪念医院深汕中心医院产前诊断与医学遗传中心就诊的27例孕中晚期股骨短小胎儿［FL＜同孕周第5百分位数或＜-2标准差（SD）］为研究对象，采集羊水或脐血样本并行染色体核型分析（19例）、染色体微阵列分析（CMA）或低深度全基因组测序（CNV-seq）（27例），并开展家系三重全外显子组测序（Trio-WES）（27例 ...
陈曼绮, 黄泽薇, 徐琦, 张蜀宁, 陈晓君, 严海燕, 李翔, 付帅   +7 more
doaj  

ST -RPCR 分析诊断常见染色体三体及其亲源性、染色体不分离时期 [PDF]

, 2005

core  

[Recent advances in predicting the surgical timing for neonatal necrotizing enterocolitis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Zhai HL, Tang Y.
europepmc   +1 more source

[The Clinical Application and Development of Tumor Biomarkers in China]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Wang C.
europepmc   +1 more source

高风险血红蛋白H病产前基因诊断

Zhongshan Daxue xuebao. Yixue kexue ban, 1994
用α珠蛋白基因探针和ＤＮＡ印迹杂交法对１７例有血红蛋白Ｈ病高风险胎儿进行了产前基因诊断，诊断结果有５例为α地中海贫血（α地贫）１杂合子或正常，５例为α地贫２杂合子，３例为血红蛋白Ｈ病，１例为血红蛋白Ｂａｒｔ胎儿水肿综合征，其余３例由于双亲一方为非缺失型α地贫，故对其胎儿的基因型不能作出准确诊断。
doaj  

应用多重引物聚合酶链反应技术对假肥大性肌营养不良症作产前基因诊断 [PDF]

, 1992

core  

[Association Study of Parity With Adverse Pregnancy Outcomes]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Yao J, Guo X, Dong X.
europepmc   +1 more source

[Surgical robot-assisted submandibular gland excision through retroauricular hairline approach: three case reports]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Ma S, He J, Cao C, Wang X, Li C, Zhu G.
europepmc   +1 more source

[Liquid Biopsy Revolutionizes the Precise Management of Tumors Across the Entire Course: Current Situation and Future Prospects]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Zeng J, Zhang J.
europepmc   +1 more source