Lv3
210 积分 2022-12-22 加入
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
2天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
2天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
9天前
已完结
Genetic diagnosis of childhood sensorineural hearing loss
22天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
1个月前
已完结
Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel
1个月前
已关闭
A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已完结
Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia
1个月前
已完结
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