Lv4
550 积分 2024-05-31 加入
Diamond-Blackfan Anemia Predisposing to Myelodysplastic Syndrome in Early Adulthood
1天前
已完结
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism
1天前
已完结
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
5天前
已关闭
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia
5天前
已完结
Obturator internus muscle abscess in a case of X-linked agammaglobulinemia
6天前
已完结
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
7天前
已完结
Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome
13天前
已关闭
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
22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
22天前
已完结
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