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46 积分 2023-08-29 加入
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
11天前
已完结
Prenatal diagnosis of familial 17q11.2 duplication encompassing NF1 in a pregnancy associated with asymptomatic carrier parent
13天前
已关闭
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
25天前
已完结
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis
25天前
已完结
Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
25天前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
1个月前
已完结
Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications
1个月前
已完结
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia
1个月前
已完结
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