Lv51
1350 积分 2022-10-04 加入
Dentatorubral‐pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent
8天前
已关闭
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy
10天前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
10天前
已完结
Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study
27天前
已完结
Genotype–phenotype correlation ofSQSTM1variants in patients with amyotrophic lateral sclerosis
27天前
已关闭
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
28天前
已关闭
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
30天前
已完结
Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor
1个月前
已完结
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
1个月前
已完结
Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies
2个月前
已完结
皖公网安备34019202002308
