Lv4
580 积分 2024-07-16 加入
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
2天前
已完结
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]
15天前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
16天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
23天前
已完结
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
2个月前
已完结
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population
3个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
3个月前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
5个月前
已完结
Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors
6个月前
已完结
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
6个月前
已完结
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