Lv4
518 积分 2024-07-11 加入
[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease]
27天前
已完结
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
1个月前
已完结
A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin
1个月前
已完结
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy
3个月前
已完结
Restoring PKP2 in arrhythmogenic cardiomyopathy
3个月前
已完结
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies
3个月前
已完结
SP-A restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2
3个月前
已完结
Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency
3个月前
已完结
Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency
3个月前
已关闭
eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss
4个月前
已完结
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