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Genome-Wide Analysis in the Study of the Fetal Growth Restriction Pathogenetics
2小时前
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Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta‐analysis
1天前
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Characterization of the complete mitochondrial genome of the firefly, Luciola substriata (Coleoptera: Lampyridae)
2个月前
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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease
4个月前
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Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
4个月前
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An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review
4个月前
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Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review
5个月前
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2773 NovelBAG3variant identified in a case of adult-onset myofibrillar myopathy
5个月前
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Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
5个月前
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Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals
5个月前
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