Lv1
38 积分 2024-11-09 加入
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
5天前
已完结
l-Serine synthesis in the central nervous system: A review on serine deficiency disorders
1个月前
已完结
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity
1个月前
已完结
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer
1个月前
已完结
Exome sequencing of 112 trios identifies recessive genetic variants in brain arteriovenous malformations
1个月前
已完结
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
1个月前
已关闭
The phenotypic spectrum of COX20-associated mitochondrial disorder
1个月前
已完结
Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy’s Disease)
1个月前
已完结
Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle
2个月前
已完结
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy
2个月前
已完结