Lv1
40 积分 2023-01-28 加入
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
10小时前
待确认
Incidence, risk factors, and outcomes of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: A systematic review and meta‐analysis
12天前
已完结
Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing
21天前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
24天前
已完结
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
26天前
已完结
An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)
26天前
已完结
Clinical implications of expanded carrier screening for pregnancy-related care and individual health
26天前
已关闭
Clinical implications of expanded carrier screening for pregnancy-related care and individual health
27天前
已关闭
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
1个月前
已完结
Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation
1个月前
已完结
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