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150 积分 2024-10-15 加入
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin
1天前
待确认
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
3天前
已完结
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin
4天前
已完结
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin
4天前
已完结
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience
8天前
已完结
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
18天前
已完结
Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations
20天前
已关闭
Linkage and mutation analysis in two Taiwanese families with long QT syndrome
22天前
已关闭
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures
26天前
已完结
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series
28天前
已完结
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