[Clinical and genetic analysis of children with Silver-Russell syndrome] [0.03%]
[临床遗传学角度分析塞勒-鲁塞尔综合征儿童患者]
Liming Zhang,Guimei Pan,Dongxia Fu et al.
Liming Zhang et al.
Objective: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. ...
[Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses] [0.03%]
遗传分析与生殖干预遗传外生骨病家系46例分析
Lilan Su,Xiao Hu,Jing Dai et al.
Lilan Su et al.
Objective: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. ...
[Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies] [0.03%]
新生儿短链酰基辅酶a脱氢酶缺乏症筛查及随访结果对新生儿筛查策略的启示性研究海南省新生儿疾病筛查中心海南省妇女儿童医学中心新生儿科海南医学院儿科海南省新生儿遗传代谢病筛查实验室海南省出生缺陷防治研究所海南省出生缺陷防控重点实验室海南省临床医学特色学科(儿科)中华医学会儿科学分会临床营养学组中国医师协会新生儿科医师分会早期发育与干预专业委员会中华人民共和国国家卫生健康委员会
Peizhen Zhao,Zhendong Zhao,Haizhu Xu
Peizhen Zhao
Objective: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the...
[Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training] [0.03%]
上海市遗传病诊断与治疗现状及临床遗传学专科医师培训对策调查研究
Xiaoju Huang,Lin Han,Li Cao et al.
Xiaoju Huang et al.
Objective: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess t...
[Research advances in the diagnosis and treatment of Polycystic kidney disease] [0.03%]
多囊肾病的诊断和治疗进展研究 advancements in the diagnosis and treatment of polycystic kidney disease
Jiafa Wu,Yuru Jing,Xiaoyuan Ning
Jiafa Wu
Polycystic kidney disease (PKD) is a group of inherited disorders characterized by cystic lesions in the kidneys and multiple organs, primarily including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycysti...
Hui Yang,Rong Xiang,Liangliang Fan
Hui Yang
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant genetic disorder. It may also involve many other organ systems, leading to complications such as exocrine pa...
[Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype] [0.03%]
[B(A)06亚型中国家系的血清学及分子遗传特征分析]
Dongdong Tian,Ding Zhao,Wei Li et al.
Dongdong Tian et al.
Objective: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. Methods: A neonatal hyperb...
[Clinical phenotype and genetic analysis of a child with Autosomal dominant intellectual developmental disorder type 5 caused by SYNGAP1 gene variant: A case report and literature review] [0.03%]
SYNGAP1基因变异所致常染色体显性遗传智力发育障碍型5临床表型及遗传分析一例报道及文献复习
Zihao Wang,Lifen Duan,Zhangxiang Wanyan et al.
Zihao Wang et al.
Objective: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genot...
[Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review] [0.03%]
小儿骨耳肝肠综合征1例分析及文献复习
Dandan Wang,Qianqian Li,Hongxiang Guo et al.
Dandan Wang et al.
Objective: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. Methods: ...
[Functional validation of a rare SOS1 gene variant and literature review] [0.03%]
SOS1罕见变异体的功能验证及文献回顾
Xiaosha Jing,Yao Liu,Yanting Yang et al.
Xiaosha Jing et al.
Objective: To analyze the functional impact of a rare heterozygous variant of SOS1 gene (c.283G>A, p.E95K) identified in a fetus with cervical cystic hygroma and to explore its association with the disease phenotype. ...