Lv31
260 积分 2025-04-19 加入
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
28分钟前
待确认
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study
1小时前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
8天前
已关闭
Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong
14天前
已完结
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
14天前
已完结
A novel autosomal dominant variant in TMC1 and rare autosomal recessive variants in GJB2, SLC26A4 caused congenital hearing loss in Vietnamese children
15天前
已完结
Next-generation sequencing for genetic testing of hearing loss populations
23天前
已完结
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
27天前
已完结
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
27天前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
30天前
已完结
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