Lv233
200 积分 2023-10-12 加入
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1天前
已关闭
PAX2 gene mutation in a family with isolated renal hypoplasia
1天前
求助中
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
2天前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
5天前
已关闭
Improvement of quality of life by intake of hydroxytyrosol in patients with lymphedema and association of lymphedema genes with obesity
9天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
12天前
已完结
A retrospective analysis of memantine use in a pediatric neurology clinic
16天前
已关闭
Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan
16天前
已完结
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
18天前
已关闭
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
20天前
已关闭
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