Lv12
30 积分 2024-10-30 加入
Loeys-Dietz syndrome with concomitant aplastic anemia
1小时前
已完结
Mutations in SMAD3 in a British cohort of thoracic aortic aneurysm and dissection (TAAD) patients
1天前
求助中
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
1天前
求助中
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
1天前
已完结
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
3天前
已完结
Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants
5天前
已完结
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
7天前
已关闭
Screening for germ-line mutations in the NF2 gene
7天前
已完结
Three school-age cases of xeroderma pigmentosum variant type
8天前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
8天前
已完结
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