Lv1
10 积分 2024-11-23 加入
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations
3天前
已完结
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants
3天前
已完结
COL3A1 Missense Variant in a Patient Presenting With Hemoptysis
3天前
已关闭
Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature review
15天前
已完结
Severe eczema in Wiskott–Aldrich syndrome‐related disorder successfully treated with dupilumab
1个月前
已完结
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India
1个月前
已完结
Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country
1个月前
已完结
The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants
1个月前
已完结
PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
1个月前
已完结
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra
1个月前
已完结
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