Lv31
308 积分 2026-01-28 加入
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
3天前
已完结
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
11天前
已关闭
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
19天前
已完结
Clinical and genetic features of sitosterolemia in Japan
19天前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
25天前
已完结
Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis
1个月前
已完结
MFAP5 variant-induced multiple giant thoracic aortic aneurysm
1个月前
已完结
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
1个月前
已关闭
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
1个月前
已完结
MFAP5 variant-induced multiple giant thoracic aortic aneurysm
1个月前
已完结
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