Lv4
454 积分 2025-02-27 加入
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
1天前
待确认
Clinical and genetics spectrum of 392 Chinese patients with genetic epilepsy with febrile seizures plus
3天前
已完结
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
20天前
已关闭
Challenges in genetic counseling for RYR1-related myopathies
1个月前
已完结
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
1个月前
已完结
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
2个月前
已完结
Chinese expert consensus on genetic testing and genetic counseling for inherited cardiovascular diseases
2个月前
已完结
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy
2个月前
已关闭
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
2个月前
已完结
Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies
3个月前
已完结
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