Lv3
250 积分 2021-07-12 加入
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1天前
待确认
Genetic Testing in the Long QT Syndrome
15天前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
18天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
18天前
已完结
Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A
24天前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
1个月前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
3个月前
已完结
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
3个月前
已关闭
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
3个月前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
3个月前
已完结
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