Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome [0.03%]
产前表型界定分支耳肾综合征EYA1疑似致病变异
Lei Sun,Defeng Shu,Wencong He et al.
Lei Sun et al.
Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations [0.03%]
遗传分析揭示了三个哥伦比亚四氢生物蝶呤缺乏症家系的临床异质性：新的基因型与表型相关性
Isabella Lince-Rivera,Natalia Martinez-Córdoba,Jorge Luis Ramón-Gómez et al.
Isabella Lince-Rivera et al.
Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding [0.03%]
两例哥伦比亚患者的黑尿酸症研究：包括新发现的HGD变异型识别
María Camila León-Sanabria,Ana María Zarante-Bahamón
María Camila León-Sanabria
Application of artificial intelligence in lung cancer diagnosis, therapy, and prognosis [0.03%]
人工智能在肺癌诊断、治疗和预后中的应用
Jianhua Wang,Ran Tian,Jianting Liu et al.
Jianhua Wang et al.
Association between the IGFBP-3 rs2854744 polymorphism and cancer risk: a meta-analysis [0.03%]
IGFBP-3rs2854744多态性与癌症风险关联的meta分析研究
Dan Sun,Lihua Xu,Yajuan Chen et al.
Dan Sun et al.
DIAPH1 regulates the Wnt/β-catenin pathway resulting in microcephaly and visual impairment [0.03%]
DIAPH1通过调控Wnt/β-catenin信号通路导致小头畸形和视觉障碍
Dayan Wang,Panjian Lai,Kan Wang et al.
Dayan Wang et al.
Background: Biallelic DIAPH1 mutations are linked to hereditary microcephaly syndrome, yet the underlying pathogenic mechanism remains unelucidated. This study aimed to clarify how DIAPH1 biallelic mutations cause microce...
CSTA and DDX24: potential biomarkers regulating ferroptosis in sepsis and their diagnostic value [0.03%]
CSTA和DDX24在脓毒症铁死亡中的潜在调控作用及其诊断价值研究
Xingkai Shen,Yangli Jin,Kaili Yang et al.
Xingkai Shen et al.
The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child [0.03%]
中国儿童初级低张力伴异常肌电图和CBS突变的第一份报告
Zhehuan Zhang,Suzhen Xu,Tianchen Wu et al.
Zhehuan Zhang et al.
The inverse relationship between copy number variation burden and age of onset of metabolic syndrome in Korean middle-aged adults [0.03%]
韩国中年人群中代谢综合征发病年龄与拷贝数变异负担的反比关系
Seong-Hee Ko,Minyeong Kim,Dayeon Shin
Seong-Hee Ko
Associations of the gut microbiome and cardiometabolic risk in adolescence: the HOME study [0.03%]
青年时期肠道菌群与心血管代际代谢风险：HOME研究
Jennifer L Arzu,Elvira S Fleury,Kim M Cecil et al.
Jennifer L Arzu et al.