[Combined CNV-seq and STR polymorphism analysis for the genetic diagnosis of 553 cases of spontaneous abortion] [0.03%]
联合CNV-seq和STR多态性分析进行553例习惯性流产的遗传诊断
Hexuan Zhang,Xiaoyi Zhang,Linjie Li et al.
Hexuan Zhang et al.
Objective: To evaluate the efficacy and clinical value of combining low-depth whole-genome copy number variation sequencing (CNV-seq) with short tandem repeat (STR) polymorphism analysis in the genetic diagnosis of sponta...
[Impact of Maternal cell contamination on the accuracy of short tandem repeat-based prenatal paternity testing] [0.03%]
[母体细胞污染对短串联重复序列产前父系鉴定准确性影响]
Guosong Shen,Wenwen Li,Yaqin Zhang et al.
Guosong Shen et al.
Objective: To evaluate the influence of varying degrees of maternal cell contamination (MCC) in amniotic fluid samples on the accuracy of short tandem repeat (STR) - based prenatal paternity testing. ...
Jiaxin Ma,Ji Qi,Yumei Li
Jiaxin Ma
Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the a...
Tao Wu,Wenhui Liu,Yang Liu et al.
Tao Wu et al.
Myelodysplastic syndrome (MDS) is a chronic hematologic disorder characterized by ineffective hematopoiesis, dysplasia of one or more cell lines with or without definite genetic changes. Its diagnosis requires a comprehensive analysis combi...
[Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors] [0.03%]
基于细胞游离胎儿DNA的无创产前检测意外发现：母体肿瘤的研究进展
Zhuangping Zhang,Xinni Shu,Yaping Hou
Zhuangping Zhang
Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened ...
[A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review] [0.03%]
ZMIZ1基因罕见变异致神经发育障碍、面部畸形和远端骨骼异常一例及文献复习
Jinghui Zou,Haibo Li,Lulu Yan
Jinghui Zou
Objective: To investigate the clinical manifestations and genetic etiology of a fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities (NEDDFSA). ...
[Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus] [0.03%]
[EFTUD2变异导致胎儿小头畸形并颌面发育不良的基因分析]
Jianyu Ren,Xiaojiao Guan,Shuang Liu et al.
Jianyu Ren et al.
Objective: To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM). Methods: ...
[Research on the screening efficiency of Thalassemia based on an automated evaluation software] [0.03%]
基于自动化报告软件的地中海贫血筛查效能研究
Jun Hu,Huan Liang,Limei Duan et al.
Jun Hu et al.
Objective: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. ...
[Two cases of Non-classic adrenal hyperplasia: Diagnostic strategies and genetic variant analysis] [0.03%]
非典型先天性肾上腺皮质增生症两例的诊断策略及遗传变异分析
Qigang Zhang,Xia Zhan,Qing Sheng et al.
Qigang Zhang et al.
Objective: To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH). ...
[Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements] [0.03%]
非KMT2A::AFF1转录本型11q23易位急性淋巴细胞白血病临床特征分析（附10例报告）
Yuanyuan Wang,Shuzhen Fu,Yong Shen et al.
Yuanyuan Wang et al.
Objective: To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes. ...