Lv4
794 积分 2022-01-12 加入
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
16天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
29天前
已完结
Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L
1个月前
已完结
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance
1个月前
已完结
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy
1个月前
已完结
Dravet syndrome with SCN1B gene mutation: A rare entity
1个月前
已完结
From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in a Female Patient
1个月前
已完结
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes
1个月前
已完结
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
1个月前
已完结
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
1个月前
已完结
皖公网安备34019202002308
