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40 积分 2025-09-29 加入
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1
18天前
已完结
365PDefining the disease mechanism of RBCK1-related polyglucosan body myopathy
19天前
已关闭
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1
1个月前
已完结
Efficacy and safety of intravenous immunoglobulin plus prednisolone therapy in patients with Kawasaki disease (Post RAISE): a multicentre, prospective cohort study
1个月前
已完结
Applying Artificial Intelligence for Phenotyping of Inherited Arrhythmia Syndromes
1个月前
已完结
Management of ultrarare inherited arrhythmia syndromes
1个月前
已完结
遗传性心律失常
1个月前
已关闭
Pediatric and Familial Genetic Arrhythmia Syndromes
1个月前
已关闭
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration
1个月前
已完结
Pediatric and Familial Genetic Arrhythmia Syndromes
1个月前
已关闭
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