Lv1
50 积分 2025-05-19 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1天前
待确认
Novel variant of ETFDH leading to multiple acyl-CoA dehydrogenase deficiency by promoting protein degradation via ubiquitin proteasome pathway
1天前
已完结
Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity
5天前
已完结
Comprehensive genotyping of Turkish women with hirsutism
7天前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
7天前
已完结
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
7天前
已完结
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review
7天前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
7天前
已完结
Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's Syndrome
7天前
已完结
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
7天前
已完结
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