Lv3
398 积分 2024-10-21 加入
Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D
16天前
已完结
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
16天前
已完结
Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis
1个月前
已完结
A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisciplinary Consultation Program at Peking Union Medical College Hospital
1个月前
已完结
A case report on the effective and safe use of ravulizumab in atypical hemolytic uremic syndrome during pregnancy
1个月前
已完结
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
1个月前
已完结
Classical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation
2个月前
已关闭
Arterial complications in classical Ehlers-Danlos syndrome: a case series
2个月前
已完结
Manifestations respiratoires des syndromes d’Ehlers-Danlos
2个月前
已完结
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia
3个月前
已完结
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