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24 积分 2022-12-22 加入
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5天前
已关闭
Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
5天前
已完结
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
5天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
13天前
已关闭
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
13天前
已完结
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study
17天前
已关闭
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
24天前
已完结
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure
27天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
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