Lv62
2210 积分 2022-11-01 加入
Two novel (R(?11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds
18天前
已关闭
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
21天前
已完结
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency
1个月前
已完结
Factor VII deficiency in China: Phenotype, genotype and current status of management
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
1个月前
已完结
SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1
1个月前
已完结
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)
1个月前
已完结
Human phenotype caused by biallelic KDM4B frameshift variant
1个月前
已完结
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