Lv1
10 积分 2024-12-03 加入
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review
1个月前
已完结
Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients
1个月前
已完结
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
1个月前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
2个月前
已完结
Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants
2个月前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
2个月前
已完结
Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature
3个月前
已完结
Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty
3个月前
已关闭
ACTN1 variants associated with thrombocytopenia
3个月前
已完结
Sotos syndrome: A study of antenatal presentation
3个月前
已完结
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