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50 积分 2025-03-19 加入
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency
1个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已完结
Morpholino oligonucleotide-mediated exon skipping for DMD treatment: Past insights, present challenges and future perspectives
2个月前
已完结
Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation
2个月前
已完结
Comprehensive mutation analysis of TSC1 using two‐dimensional DNA electrophoresis with DGGE
2个月前
已完结
Molecular genetics of dystrophinopathy
3个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
3个月前
已完结
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing
3个月前
已完结
Muenke syndrome: An international multicenter natural history study
3个月前
已完结
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
7个月前
已完结
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