Lv2
148 积分 2024-03-11 加入
Updated Genotype-Phenotype Correlations in TSC
10天前
已完结
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention
2个月前
已完结
A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China
2个月前
已关闭
Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain
4个月前
已关闭
A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency
5个月前
已关闭
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
5个月前
已完结
Cutaneous histiocytoses in children
6个月前
已完结
Histiocitosis
6个月前
已关闭
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
6个月前
已完结
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
7个月前
已完结
皖公网安备34019202002308
