[Outcome of clinical follow-up of maternal malignant tumors indicated by abnormal NIPT signals] [0.03%]
基于NIPT异常信号临床追踪随访母体恶性肿瘤结局分析
Yuanyuan Ying,Feiyan Pan,Zhehang He et al.
Yuanyuan Ying et al.
Objective: To assess the clinical value of non-invasive prenatal testing (NIPT) for identifying maternal malignant tumors. Methods: A r...
[Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review] [0.03%]
CCN6基因复合杂合变异导致的进行性假风湿样畸形症1例临床分析及文献复习
Mengyu Wang,Qiaofeng Ma,Zhenhong Zhang et al.
Mengyu Wang et al.
Objective: To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. ...
[Clinical phenotype and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene] [0.03%]
KIF12复合杂合变异导致的第八种进行性家族遗传性肝内胆汁淤积症患儿的临床表型和基因分析
Xiaoying Zhou,Jun Zhang,Wenting Zhang
Xiaoying Zhou
Objective: To explore the clinical manifestation and genotype of a child with Progressive familial intrahepatic cholestasis 8 (PFIC8) due to variant of KIF12 gene. ...
[Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis] [0.03%]
短肋多指综合征六型1例长期误诊分析
Chao Zhang,Peiyao Wang,Ziyan Cen et al.
Chao Zhang et al.
Objective: To analyze the clinical characteristics of a patient with Short rib-polydactyly syndrome type 6 (SRTD6) with long-term misdiagnosis, and improve its clinical recognition by reviewing the relevant literature. ...
[Analysis of clinical characteristics and genetic etiology of a child with Osteopathia striata with Cranial sclerosis due to variant of AMER1 gene] [0.03%]
AMER1基因变异所致颅骨硬化型骨striped osteopathy综合征患儿的临床及遗传特征分析
Huichun Zhang,Wenhan Yin,Yanli Wang et al.
Huichun Zhang et al.
Objective: To explore the clinical characteristics and genetic etiology of a child with Osteopathia striata with cranial sclerosis (OSCS) due to variant of AMER1 gene. ...
[Clinical and genetic analysis of a child with Intellectual developmental disorder with dysmorphic features and behavioral abnormalities due to a de novo variant of FBXO11 gene] [0.03%]
FBXO11基因新发变异所致智力发育障碍兼畸形特征和行为异常的临床与遗传分析
Qiumei Zhang,Kai Liu,Yongzhen Qi et al.
Qiumei Zhang et al.
Objective: To explore the genetic etiology for a child presenting with motor retardation, language delay, intellectual disability, and dysmorphic features. ...
[Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review] [0.03%]
AP4S1基因变异所致遗传性痉挛性截瘫52型的临床及基因分析和文献复习
Li Yang,Zihao Zhu,Ran Hua et al.
Li Yang et al.
Objective: To explore the clinical phenotype and genetic characteristics of a child with hereditary Spastic paraplegia type 52 (SPG52) due to variant of AP4S1 gene. ...
[Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia] [0.03%]
RARS2相关桥脑小脑发育不全6例临床及遗传分析
Xiaoli Zhang,Mengyue Wang,Jialin Li et al.
Xiaoli Zhang et al.
Objective: To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants. Methods: The clinica...
[Clinical characteristics and genetic analysis of four patients with Disorders of sex development] [0.03%]
[四种性发育障碍患者的临床特征及基因分析]
Xiuyan Wang,Fanrong Meng,Yunfang Shi et al.
Xiuyan Wang et al.
Objective: To explore the clinical characteristics and genetic factors in four patients with Disorder of sex development (DSD). Methods: ...
[Clinical characteristics and genetic analysis of patients with 46,XY Disorders of sex development and a female phenotype: A single-center study] [0.03%]
[46,XY染色体性别发育异常患者的临床特征及遗传学分析：单中心研究]
Dongxia Fu,Lei Liu,Xue Wu et al.
Dongxia Fu et al.
Objective: To analyze the clinical characteristics and genetic profile of patients with 46,XY Disorders of sex development (DSD) and a female phenotype in order to provide insights for the diagnosis and management of simi...