Lv2
130 积分 2024-08-13 加入
单基因病临床意义不明变异实施植入前遗传学检测的策略研究
3天前
已完结
单基因病临床意义不明变异实施植入前遗传学检测的策略研究
3天前
已关闭
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1
16天前
已完结
Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype
17天前
已完结
Novel variants in DNAH17 cause sperm flagellar outer dynein arm defects but not total fertilization failure after ICSI
22天前
已完结
Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma
2个月前
已完结
A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish
3个月前
已完结
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss
3个月前
已完结
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain
5个月前
已关闭
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
5个月前
已完结
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