Lv3
398 积分 2024-10-21 加入
Familial pulmonary fibrosis with dyskeratosis congenita associated with a rare RTEL1 gene mutation
19天前
已完结
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion
1个月前
已完结
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8
1个月前
已完结
Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D
3个月前
已完结
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
3个月前
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
4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
4个月前
已完结
A case report on the effective and safe use of ravulizumab in atypical hemolytic uremic syndrome during pregnancy
4个月前
已完结
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
5个月前
已完结
Classical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation
5个月前
已关闭
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