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xiaowu
Lv1
100 积分
2023-08-15 加入
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Novel biallelic mutations in PADI6 in patients with early embryonic arrest
23小时前
已完结
ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia
1天前
已关闭
FSIP2plays a role in the acrosome development during spermiogenesis
3天前
已完结
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
12天前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
14天前
已完结
[Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing]
21天前
已完结
A rare PAX6 mutation in a Chinese family with congenital aniridia
21天前
已关闭
Genetic Screening in a Large Cohort of Italian Patients Affected by Primary Lymphedema Using a Next Generation Sequencing (NGS) Approach
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
Congenital muscle dystrophies: role of singleton whole exome sequencing in countries with limited resources
2个月前
已完结
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21天前
求助反馈文章标题为Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase,且PMID和求助文章不同,摘要部分也不同。
4个月前
内容与文章内容不符,为Evaluation of anticonvulsant and analgesic effects of benzyl- and benzhydryl ureides附件,而非求助附件。
4个月前
核查文献内容、作者均与标题无关
5个月前
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