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60 积分 2022-06-14 加入
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease
15小时前
已关闭
ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
16小时前
已完结
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease
16小时前
已关闭
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
12天前
已完结
[Clinical and mutational study of a Chinese infant with isovaleric acidemia]
15天前
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[Clinical and mutational study of a Chinese infant with isovaleric acidemia]
15天前
已关闭
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
23天前
已完结
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
27天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
27天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
27天前
已完结
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