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50 积分 2022-11-22 加入
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
3天前
已完结
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty
3天前
求助中
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic
13天前
已完结
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations
13天前
已完结
Molecular and clinical profiles of pediatric monogenic diabetes subtypes: comprehensive genetic analysis of 138 patients
19天前
已关闭
Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography
23天前
已完结
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
26天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
27天前
已完结
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
27天前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
28天前
已完结
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