Lv12
42 积分 2025-02-08 加入
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
1天前
待确认
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
9天前
已关闭
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data
18天前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
19天前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
2个月前
已完结
Mutation Screening of TFG in α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
2个月前
已完结
皖公网安备34019202002308
