Lv11
63 积分 2022-03-28 加入
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
1小时前
待确认
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
1小时前
待确认
34752165
16天前
已完结
Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency
1个月前
已完结
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
1个月前
已完结
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
2个月前
已完结
U2AF2variantinapatientwithdevelopmentaldelaydysmorphicfeaturesandepilepsy
2个月前
已完结
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications
2个月前
已完结
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
2个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
3个月前
已完结
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