Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies
characterized by deficits in social interaction and repetitive behaviors, collectively affecting …

Background/Objectives: Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, is a
debilitating, incurable neurodegenerative disorder characterised by motor neuron death in …

New technologies in genetic diagnostics have revolutionized the understanding and
management of rare diseases. This review highlights the significant advances and latest …

Parent-of-origin-dependent gene expression of a few hundred human genes is achieved by
differential DNA methylation of both parental alleles. This imprinting is required for normal …

哺乳動物的DNA 甲基化是一種在調節各種細胞事件中, 發揮關鍵作用的表觀遺傳修飾機制.
甲基化失調與多種人類疾病, 包括癌症有關. 在哺乳動物中, DNA 甲基化是由三種DNA …

Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a rare
genetic disorder characterized by variable immunodeficiency. More than half of the affected …