Lv2
160 积分 2025-02-27 加入
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
2天前
已完结
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome
3天前
已完结
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
3天前
已关闭
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene
3天前
已完结
Molecular characterization of congenital myasthenic syndromes in Spain
3天前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
1个月前
已完结
Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication
1个月前
已完结
Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing
1个月前
已完结
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