Lv21
166 积分 2024-05-16 加入
Early-onset Hereditary Spastic Paraplegia (SPG3A) Misdiagnosed as Diplegic Cerebral Palsy in a Child With Multigenerational Family History and Normal Birth (P3-9.005)
1天前
待确认
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4
3天前
已关闭
Growing skull fracture at birth: a rare presentation of Menkes disease
4天前
已完结
A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report
5天前
已完结
[Clinical characteristics and treatment responses of X-linked thrombocytopenia]
5天前
已完结
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
5天前
已完结
Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report
6天前
已完结
Clinical and laboratory features of two variants of methemoglobin M disease
7天前
已关闭
miR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A
9天前
已完结
Rare Pathogenic β(0)-Thalassemia Mutation, Codon 7 (GAG>TAG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece
9天前
已完结
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