Lv11
50 积分 2025-04-29 加入
Exome sequencing reveals novel candidate gene variants associated with clinical characteristics in alopecia areata patients
1小时前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
15天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
15天前
已完结
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
16天前
已完结
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
23天前
已完结
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes
24天前
已完结
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
1个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
1个月前
已完结
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
1个月前
已关闭
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
1个月前
已完结
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