Lv4
560 积分 2024-05-31 加入
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
16小时前
已关闭
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia
1天前
已完结
Obturator internus muscle abscess in a case of X-linked agammaglobulinemia
1天前
已完结
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
2天前
已完结
Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome
9天前
已关闭
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
17天前
已完结
Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease
18天前
已完结
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population
29天前
已完结
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss
1个月前
已完结
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