Lv1
28 积分 2025-08-27 加入
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects
2天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
3个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3个月前
已完结
Clinical and molecular analysis of seventy-one fetal cases with RASopathies
3个月前
已完结
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort
6个月前
已完结
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort
6个月前
已完结
Epidemiology of ectopia lentis and outcomes after surgery in a Danish population
7个月前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
7个月前
已完结
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
7个月前
已完结
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome
8个月前
已关闭
皖公网安备34019202002308
