Lv51
1420 积分 2023-09-18 加入
Combined Use of In Silico and In Vitro Splicing Assays for Interpretation of Genomic Variants of Unknown Significance in Cardiomyopathies and Channelopathies
13天前
已关闭
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
1个月前
已完结
CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family
1个月前
已完结
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy
2个月前
已完结
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
4个月前
已完结
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
4个月前
已完结
Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: a cross-sectional study
4个月前
已完结
To the question of genetic predisposition to the development of professional sensorineural hearing loss
4个月前
已关闭
Simultaneous liver kidney transplantation in a primary type 2 hyperoxaluria with corrected TOF and severe cardiomyopathy: A case report
4个月前
已完结
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