Lv4
408 积分 2024-10-21 加入
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
3天前
已完结
A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisciplinary Consultation Program at Peking Union Medical College Hospital
6天前
已完结
A case report on the effective and safe use of ravulizumab in atypical hemolytic uremic syndrome during pregnancy
19天前
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
1个月前
已关闭
Arterial complications in classical Ehlers-Danlos syndrome: a case series
1个月前
已完结
Manifestations respiratoires des syndromes d’Ehlers-Danlos
1个月前
已完结
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia
2个月前
已完结
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
2个月前
已完结
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
2个月前
已完结
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