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Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2021; 29 (7)

Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and i......

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2021; 29 (8)

Critically ill coronavirus disease 2019 (COVID-19) is characterized by severe cytokine storms, a hyperinflammatory condition intimately related to the......

Homozygous variants in PANX1 cause human oocyte death and female infertility

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, ; ()

PANX1, one of the members of the pannexin family, is a highly glycosylated channel-forming protein. Recently, we identified heterozygous variants in P......

Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, ; ()

To elucidate whether Bronze Age population dispersals from the Eurasian Steppe to South Asia contributed to the gene pool of Indo-Iranian-speaking gro......

Medium-coverage DNA sequencing in the design of the genetic association study

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (10)

DNA sequencing is a widely used tool in genetic association study. Sequencing cost remains a major concern in sequencing-based study, although the app......

Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer

期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (11)

BRAFandMLH1promoter methylation testings have been proven effective prescreens for Lynch Syndrome. We aimed to compare different screening strategies ......

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