Lv1
50 积分 2024-10-28 加入
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
1天前
待确认
Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
3天前
已完结
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
9天前
已完结
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency
15天前
已完结
Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy
16天前
已完结
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
17天前
已关闭
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
21天前
已完结
Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
22天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
25天前
已关闭
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