Lv1
50 积分 2023-01-28 加入
Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing
8小时前
求助中
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
3天前
已完结
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
5天前
已完结
An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)
5天前
已完结
Clinical implications of expanded carrier screening for pregnancy-related care and individual health
5天前
已关闭
Clinical implications of expanded carrier screening for pregnancy-related care and individual health
6天前
已关闭
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
12天前
已完结
Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation
18天前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
20天前
已完结
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis
21天前
已完结
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