Lv21
160 积分 2024-03-20 加入
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
1小时前
待确认
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
1个月前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
1个月前
已完结
The role of orotic acid measurement in routine newborn screening for urea cycle disorders
1个月前
已完结
[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing]
1个月前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
1个月前
已完结
Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation
1个月前
已完结
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency
2个月前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
3个月前
已完结
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
5个月前
已完结
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