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50 积分 2024-12-13 加入
AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma
4个月前
已完结
A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study
4个月前
已完结
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers
4个月前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
4个月前
已完结
TBC1D24-Related Disorders
4个月前
已完结
Human phenotype caused by biallelic KDM4B frameshift variant
4个月前
已完结
Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype
4个月前
已完结
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features
4个月前
已关闭
Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
4个月前
已完结
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