Lv2
130 积分 2026-04-14 加入
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants
1个月前
已关闭
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection
1个月前
已完结
The Bispectral Index
1个月前
已关闭
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
1个月前
已完结
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
1个月前
已完结
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea
1个月前
已完结
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
1个月前
已完结
皖公网安备34019202002308
