Zobrazeno 1 - 10
of 1 767
pro vyhledávání: '"Candidate Disease Gene"'
Autor:
Saeid Azadifar, Ali Ahmadi
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-25 (2022)
Abstract Background Selecting and prioritizing candidate disease genes is necessary before conducting laboratory studies as identifying disease genes from a large number of candidate genes using laboratory methods, is a very costly and time-consuming
Externí odkaz:
https://doaj.org/article/fb3da7655f82454f96abe40a837e6b10
Autor:
Azadifar, Saeid1 (AUTHOR) saeid.azadifar@email.kntu.ac.ir, Ahmadi, Ali1 (AUTHOR)
Publikováno v:
BMC Bioinformatics. 10/14/2022, Vol. 23 Issue 1, p1-25. 25p.
Autor:
Kai Luo, Chenqing Zheng, Rong Luo, Xin Cao, Huajun Sun, Huihui Ma, Jichang Huang, Xu Yang, Xiushan Wu, Xiaoping Li
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
Abstract Background Familial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic function. Fifty-one DCM-causative genes have been reported, most of which are inherited in an au
Externí odkaz:
https://doaj.org/article/8845f7c8cd7f4cc2a6d57100fd618510
Akademický článek
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Autor:
Luo, Kai1,2 (AUTHOR), Zheng, Chenqing3 (AUTHOR), Luo, Rong4 (AUTHOR), Cao, Xin5 (AUTHOR), Sun, Huajun2,6 (AUTHOR), Ma, Huihui1,2 (AUTHOR), Huang, Jichang4 (AUTHOR), Yang, Xu3 (AUTHOR), Wu, Xiushan7,8 (AUTHOR) xiushanwu2003@aliyun.com, Li, Xiaoping1,2 (AUTHOR) lixiaoping0119@163.com
Publikováno v:
BMC Medical Genomics. 9/6/2022, Vol. 15 Issue 1, p1-12. 12p.
Akademický článek
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Autor:
Ballouz, Sara1,2,3, Liu, Jason Y.1, George, Richard A.1, Bains, Naresh1, Liu, Arthur1, Oti, Martin4, Gaeta, Bruno2, Fatkin, Diane5,6, Wouters, Merridee A.7 m.wouters@deakin.edu.au
Publikováno v:
BMC Bioinformatics. 2013, Vol. 14 Issue 1, p1-9. 9p.
Autor:
Sara Ballouz, Jason Y. Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A. Wouters
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 44-57 (2014)
Abstract Current single‐locus‐based analyses and candidate disease gene prediction methodologies used in genome‐wide association studies (GWAS) do not capitalize on the wealth of the underlying genetic data, nor functional data available from m
Externí odkaz:
https://doaj.org/article/8c07cdbe574c44818d8c501b2e69ce70
Autor:
Amar J. Majmundar, Eugen Widmeier, John F. Heneghan, Ankana Daga, Chen-Han Wilfred Wu, Florian Buerger, Hannah Hugo, Ihsan Ullah, Ali Amar, Isabel Ottlewski, Daniela A. Braun, Tilman Jobst-Schwan, Jennifer A. Lawson, Muhammad Yasir Zahoor, Nancy M. Rodig, Velibor Tasic, Caleb P. Nelson, Shagufta Khaliq, Ria Schönauer, Jan Halbritter, John A. Sayer, Hanan M. Fathy, Michelle A. Baum, Shirlee Shril, Shrikant Mane, Seth L. Alper, Friedhelm Hildebrandt
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Nephrolithiasis (NL) affects 1 in 11 individuals worldwide, leading to significant patient morbidity. NL is associated with nephrocalcinosis (NC), a risk factor for chronic kidney disease. Causative genetic variants are detected in 11-28% of NL and/o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35263496f6d789cf51cbc5c2245309e7
https://pubmed.ncbi.nlm.nih.gov/36571463
https://pubmed.ncbi.nlm.nih.gov/36571463
Autor:
Luo, Kai, Zheng, Chenqing, Luo, Rong, Cao, Xin, Sun, Huajun, Ma, Huihui, Huang, Jichang, Yang, Xu, Wu, Xiushan, Li, Xiaoping
Additional file 1. Identification of candidate disease gene for the consanguineous family with dilated cardiomyopathy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d1e8f5881707981fbcda5fca01746b
