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20 积分
2023-09-26 加入
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Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
15小时前
待确认
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population
18小时前
已完结
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
3天前
已完结
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China
10天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
10天前
已完结
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
12天前
已完结
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
13天前
已完结
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
14天前
已完结
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
14天前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
14天前
已完结
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您好,可以帮忙下载一下补充材料吗,感谢~~~
7个月前
感谢,速度真快,帮大忙了
7个月前
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