Lv1
60 积分 2025-02-08 加入
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate
5小时前
待确认
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
3天前
已完结
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
3天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
15天前
已完结
Functional significance of mutations in the Snf2 domain of ATRX
22天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
28天前
已完结
Prenatal microcephaly: Exome sequencing aids rapid determination of causative etiologies
28天前
已完结
Congenital hyperinsulinism with hyperammonaemia
29天前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Prevalence of four Mendelian disorders associated with autism in 2392 affected families
1个月前
已完结
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