Lv11
58 积分 2023-10-17 加入
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
6小时前
待确认
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
21天前
已完结
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
30天前
已完结
Decreased Imiquimod-Induced Psoriasis-Like Skin Inflammation in a Novel MvdF250S/+ Knock-In Mouse Model
1个月前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
2个月前
已完结
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]
2个月前
已完结
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]
2个月前
已关闭
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
2个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
3个月前
已完结
Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia
3个月前
已完结
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