Lv4
550 积分 2021-12-20 加入
PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
12天前
已关闭
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
14天前
已关闭
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
1个月前
已完结
[Coagulation factor IX gene mutations of ten patients with hemophilia B]
1个月前
已完结
Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice
2个月前
已完结
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
2个月前
已完结
Treatment during a vulnerable developmental period rescues a genetic epilepsy
2个月前
已完结
A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
3个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
4个月前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
4个月前
已完结
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