Lv4
720 积分 2022-03-31 加入
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
6天前
已完结
Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction
6天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
20天前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
28天前
已完结
Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease
1个月前
已关闭
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
2个月前
已完结
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
2个月前
已完结
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
2个月前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
2个月前
已关闭
Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia
2个月前
已完结
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