Lv4
740 积分 2022-03-31 加入
Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa
1天前
已关闭
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
20天前
已完结
Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction
20天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
1个月前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
1个月前
已完结
Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease
2个月前
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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
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