Lv4
676 积分 2022-01-12 加入
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
13天前
已完结
Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome
16天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
28天前
已完结
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
1个月前
已完结
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
1个月前
已完结
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
1个月前
已完结
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
1个月前
已关闭
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
2个月前
已完结
Genetics of hypertrophic cardiomyopathy in Norway
2个月前
已完结
R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome
2个月前
已完结
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