Lv11
78 积分 2021-04-21 加入
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants
2小时前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
10天前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
10天前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
1个月前
已完结
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
1个月前
已完结
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells
1个月前
已完结
Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke
2个月前
已完结
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