Lv1
35 积分 2022-03-28 加入
Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene
9天前
已完结
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
1个月前
已完结
U2AF2variantinapatientwithdevelopmentaldelaydysmorphicfeaturesandepilepsy
1个月前
已完结
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications
1个月前
已完结
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
1个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
1个月前
已完结
皖公网安备34019202002308
