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262 积分 2024-08-06 加入
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
16天前
已关闭
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
16天前
已完结
PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia
21天前
已完结
Fetal phenotypes of Mendelian disorders: A descriptive study from India
22天前
已完结
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
22天前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
2个月前
已完结
Genome‐Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India
2个月前
已完结
The impact of TRPV4 pathogenic mutations on barrier integrity
2个月前
已完结
Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study
2个月前
已完结
Clinicopathological features in two families with MARS‐related Charcot–Marie–Tooth disease
2个月前
已完结
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