Lv3
398 积分 2024-10-16 加入
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
1个月前
已关闭
Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre
1个月前
已关闭
A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta
1个月前
已关闭
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
3个月前
已关闭
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
3个月前
已完结
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
3个月前
已完结
[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene]
3个月前
已完结
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