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100 积分 2021-12-08 加入
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy
5小时前
求助中
Liddle’s Syndrome Caused by a Novel Mutation in the Proline-Rich PY Motif of the Epithelial Sodium Channel β-Subunit
2个月前
已完结
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess
2个月前
已完结
Two sporadic cases of liddle’s syndrome caused by de novo ENaC mutations
2个月前
已完结
A novel epithelial sodium channel γ‐subunit de novo frameshift mutation leads to Liddle syndrome
2个月前
已完结
Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients
2个月前
已完结
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene
2个月前
已完结
A Novel Mutation in the β-Subunit of the Epithelial Sodium Channel Gene (SCNNIB) in a Thai Family with Liddle's Syndrome
2个月前
已完结
A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension
2个月前
已完结
Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report
2个月前
已完结
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