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40 积分 2023-01-10 加入
The characteristics of digenic familial exudative vitreoretinopathy
4天前
已完结
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
6天前
已完结
Oliver McFarlane syndrome: two new cases and a review of the literature
7天前
已完结
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
12天前
已完结
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
12天前
已完结
[Clinical features of epilepsies associated with GABRB2 variants]
14天前
已完结
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy
28天前
已完结
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
1个月前
已完结
Epilepsy genetics: clinical impacts and biological insights
1个月前
已完结
Developmental and epileptic encephalopathies: what we do and do not know
1个月前
已完结
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