Lv33
220 积分 2025-04-29 加入
Pheochromocytoma in von Hippel‐Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma
2天前
已完结
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort
2天前
已完结
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]
10天前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
1个月前
已完结
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia
1个月前
已完结
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
1个月前
已完结
Genotype–phenotype correlation in children with hereditary spherocytosis
3个月前
已完结
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
3个月前
已完结
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