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cong1216
Lv1
1
30 积分
2023-01-14 加入
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MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study
1小时前
求助中
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
7天前
已完结
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants
8天前
已完结
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation
22天前
已完结
‘‘Eye of tiger sign” mimic in patients with spastic paraplegia gene 7 (SPG7) mutations
29天前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
29天前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1个月前
已完结
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
1个月前
已关闭
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure
1个月前
已完结
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources
1个月前
已完结
没有进行任何应助
第一个可以打开,第2个不行,帮忙发我邮箱吧,dingcongcon.g@163.com,谢谢~
2个月前
下不下来,能提供paf版本的吗,谢谢啦
2个月前
只需要附录
4个月前
只需要附录,不需要正文
10个月前
感谢
1年前
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