Lv4
470 积分 2026-01-28 加入
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
8天前
已完结
Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing
8天前
已完结
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
10天前
已完结
Cochlear Implantation Outcomes in Children With CDH23 Mutations–Associated Hearing Loss
22天前
已完结
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
1个月前
已完结
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
1个月前
已关闭
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
1个月前
已完结
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
1个月前
已关闭
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
2个月前
已完结
Clinical and genetic features of sitosterolemia in Japan
2个月前
已完结
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