期刊： HUMAN GENOMICS, 2022; 16 (1)
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also known as Mullerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypica......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat d......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an i......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background: Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies ......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Focal and segmental glomerulosclerosis (FSGS) is a histological pathology that characterizes a wide spectrum of diseases. Many genes associ......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in the general population of betw......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Thyroid eye disease (TED) is the most common orbital pathology that occurs in up to 50% of patients with Graves' disease. Herein, we aimed ......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Propranolol is a first-line clinical drug for infantile haemangiomas (IH) therapy. Nevertheless, resistance to propranolol is observed in s......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Age-related diseases account for almost half of all diseases among adults worldwide, and their incidence is substantially affected by the exposome, wh......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Over the past few decades, global maternal obesity prevalence has rapidly increased. This condition may induce long-lasting pathophysiologi......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis ......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Heterotaxy syndrome (HTX) is caused by aberrant left-right patterning early in embryonic development, which results in abnormal positioning......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Aerobic glycolysis is an emerging hallmark of cancer. Although some studies have constructed glycolysis-related prognostic models of colon ......
期刊： HUMAN GENOMICS, 2022; 16 (1)
Background Gastric cancer (GC) shows high metastasis and low survival. RNA modification writers play critical roles in tumor development. This study e......
