Lv11
80 积分 2025-03-06 加入
Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
4小时前
待确认
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review
1个月前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
2个月前
已完结
[Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome]
3个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
3个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
3个月前
已关闭
Novel Mutations in the WNT1, TMEM38B, P4HB, and PLS3 Genes in Four Unrelated Chinese Families With Osteogenesis Imperfecta
3个月前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
4个月前
已完结
Achondroplasia
4个月前
已完结
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