Lv2
164 积分 2024-04-24 加入
Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review
2天前
已完结
表现为腰痛、驼背及帕金森综合征的伴皮质下梗死和白质脑病的常染色体显性脑动脉病
3天前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
11天前
已完结
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris
12天前
已完结
Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
12天前
已完结
Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis
12天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
16天前
已完结
A clinical and genetic study of SPG31 in Japan
19天前
已完结
TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up
24天前
已完结
Clinical phenotypes of TBC1D24 gene related epilepsy
24天前
已完结
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