Lv3
306 积分 2024-04-22 加入
Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family
5天前
已完结
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine
12天前
已完结
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
21天前
已完结
LAMA5 deficiency disrupts ECM–WNT crosstalk in chondrogenesis and contributes to idiopathic short stature
1个月前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
1个月前
已完结
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium
1个月前
已完结
Genetic and clinical profile of patients with hypophosphatemic rickets
1个月前
已完结
Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila
1个月前
已完结
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium
1个月前
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