Lv1
24 积分 2025-04-29 加入
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
1天前
待确认
[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing]
1天前
已完结
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]
2天前
求助中
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
6天前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
28天前
已完结
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I]
1个月前
已完结
Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
3个月前
已关闭
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
3个月前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
3个月前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
3个月前
已完结
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