Lv11
88 积分 2024-02-07 加入
Heterozygous Loss‐of‐Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia
11天前
已完结
Novel <i>GUCY2D</i> Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient
12天前
已完结
Genetic diagnosis of childhood sensorineural hearing loss
12天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
12天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
13天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已完结
[Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease]
1个月前
已完结
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort
1个月前
已完结
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