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84 积分 2025-04-29 加入
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency]
9小时前
待确认
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
2个月前
已完结
[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing]
2个月前
已完结
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]
2个月前
已关闭
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
2个月前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
3个月前
已完结
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I]
4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
5个月前
已关闭
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
5个月前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
6个月前
已完结
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