Lv3
258 积分 2023-08-25 加入
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration
22小时前
已完结
Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia
1个月前
已关闭
Clinical, myopathological features and sodium channel α-subunit encoding gene mutation analysis in 17 patients with skeletal muscle sodium channelopathies
1个月前
已完结
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
1个月前
已关闭
TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions
1个月前
已完结
[Clinical characteristics and genetic analysis of mental retardation disorder with TRIO gene variant]
1个月前
已关闭
Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation
1个月前
已关闭
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing
1个月前
已关闭
Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family
1个月前
已完结
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations
1个月前
已完结
银屑病关节炎的诊治现状与挑战
1年前
已采纳
基于核心素养的“化学能与电能”教学设计
1年前
已采纳
标准化屋尘螨提取液治疗儿童支气管哮喘的安全性研究
1年前
已采纳
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