Lv31
230 积分 2024-04-11 加入
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China
6小时前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
12天前
已完结
Identification of a novel missense mutation in Wilson's disease gene
12天前
已关闭
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
1个月前
已完结
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
1个月前
已完结
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction
2个月前
已完结
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs
2个月前
已完结
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis
6个月前
已完结
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