Lv33
388 积分 2024-01-09 加入
Molecular genetics of HMG-CoA lyase deficiency
3小时前
待确认
Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
4小时前
已完结
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
4小时前
求助中
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
1天前
已完结
Exploring genotype–phenotype correlations in glutaric aciduria type 1
2天前
已完结
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1
2天前
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
已关闭
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]
1个月前
已完结
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience
1个月前
已完结
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India
1个月前
已完结
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