Lv5
1340 积分 2020-04-26 加入
Bringing AI to Cancer’s Regulatory Genome
4天前
求助中
Employing bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk
4天前
求助中
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
24天前
已完结
Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect
26天前
已完结
Juvenile Hemochromatosis With Non-transfused Hemolytic Anemia Caused by a De Novo PIEZO1 Gene Mutation
26天前
已完结
Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis
26天前
已完结
Mild erythrocytosis as a presenting manifestation ofPIEZO1associated erythrocyte volume disorders
26天前
已完结
Hereditary xerocytosis, a misleading anemia
26天前
已完结
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
29天前
已完结
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants
1个月前
已完结
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