Lv3
206 积分 2021-04-21 加入
糖原累积病Ⅱ型七例的临床表现及基因突变分析
16天前
已完结
Lymphatic Malformation: Classification, Pathogenesis, and Therapeutic Strategies
1个月前
已关闭
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center
2个月前
已完结
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
3个月前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
4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
4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
5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
5个月前
已完结
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