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70 积分 2026-04-14 加入
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection
4小时前
待确认
The Bispectral Index
4小时前
已关闭
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
5小时前
已完结
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
12小时前
已完结
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea
15小时前
已完结
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
1天前
已完结