المؤلفون: Cecelia W. Lo, Stephen Sanders, Sarah U. Morton, Irina R. Tikhonoa, Samir Zaidi, Elizabeth Goldmuntz, Hongjian Qi, Richard B. Kim, Jonathan R. Kaltman, Jonathan G. Seidman, Xue Zeng, Jason Homsy, George A. Porter, W. Scott Watkins, Deepak Srivastava, Weni Chang, Martin Tristani-Firouzi, Seema Mital, James R. Knight, Qiongshi Lu, Steven R. DePalma, John E. Deanfield, Christopher Castaldi, J. William Gaynor, Yufeng Shen, Bruce D. Gelb, Mark W. Russell, Richard P. Lifton, Alessandro Giardini, Kaya Bilguvar, Wendy K. Chung, Jane W. Newburger, H. Joseph Yost, Sheng Chih Jin, Mark Yandell, Martina Brueckner, Shrikant Mane, Robert D. Bjornson, Wei Chien Hung, Amy E. Roberts, Junhui Zhang, Christine E. Seidman, Michael C. Sierant, Hongyu Zhao, Shozeb Haider

المصدر: Nature genetics
Nature genetics, vol 49, iss 11

مصطلحات موضوعية: Heart Defects, Congenital, Risk, Adult, Male, 0301 basic medicine, Proband, Heterozygote, Heart disease, Gene Expression, Genome-wide association study, Biology, Medical and Health Sciences, Article, Growth Differentiation Factor 1, Congenital, 03 medical and health sciences, Genotype, Genetics, medicine, Humans, Genetic Predisposition to Disease, Exome, cardiovascular diseases, Autistic Disorder, Child, Exome sequencing, Heart Defects, Tetralogy of Fallot, Myosin Heavy Chains, Homozygote, Case-control study, High-Throughput Nucleotide Sequencing, Biological Sciences, Vascular Endothelial Growth Factor Receptor-3, medicine.disease, Pedigree, 3. Good health, Editorial, 030104 developmental biology, Case-Control Studies, Mutation, Female, Cardiac Myosins, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901990cdfca7f6f14265588f9eac4db8Test
https://doi.org/10.1038/ng.3970Test

المؤلفون: Qingfeng Cao, Meilin Wang, Hong Li, Chaokui Wang, Liang Liang, Liping Du, Yan Zhou, Ke Hu, Lulin Huang, Meifen Zhang, Jian Qi, Bo Lei, Peizeng Yang, Chi Pui Pang, Wenjuan Zhuang, Jianfeng Xu, Dan Liao, Zhenglin Yang, Hongsong Yu, Aize Kijlstra, Minglian Zhang, Lin Bai, Zi Ye, Qi Zhang, Qingyun Zhou, Shengping Hou, Yuan Tian, Bo Gong, Yunjia Liu

المساهمون: Promovendi MHN, RS: MHeNs - R3 - Neuroscience, Oogheelkunde

المصدر: Nature Genetics, 46(9), 1007-1011. Nature Publishing Group

مصطلحات موضوعية: Adult, musculoskeletal diseases, Genotype, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Ciliary body, Asian People, Polymorphism (computer science), Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Promoter Regions, Genetic, Gene, Aged, Chromosomes, Human, Pair 10, Odds ratio, Middle Aged, eye diseases, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Genetic Loci, Case-Control Studies, Female, Choroid, Uveomeningoencephalitic Syndrome, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3b9ffa611677c3d3c44a5d6688f6d38Test
https://doi.org/10.1038/ng.3061Test

المؤلفون: Aby Jacob, Josephine Hoh, Paul Mitchell, Terri L. Young, David St Clair, Jamie E Craig, Kathryn P. Burdon, Chi Pui Pang, Stuart MacGregor, Agnar Helgason, Maria Soffia Gottfredsdottir, Kari Stefansson, Asgeir Sigurdsson, Pancy O. S. Tam, Kristinn P. Magnusson, Orn Sveinsson, David A. Mackey, Sarah Ennis, Juliana C.N. Chan, Gudrun J Gudmundsdottir, Angela J. Cree, Alex W. Hewitt, Jane Gibson, Christopher J Hammond, Fridbert Jonasson, Augustine Kong, Gisli Masson, Richard C. Trembath, Andrew J. Lotery, Gudmar Thorleifsson, Adalbjorg Jonasdottir, Laura Southgate, Nelson L.S. Tang, Dennis S.C. Lam, Kristjan Thordarson, Unnur Thorsteinsdottir, Andrew T. DeWan, Nicholas G. Martin, Micheala A. Aldred, Sigurjon A. Gudjonsson, Alex MacLeod, G. Bragi Walters, Claes Wadelius, W Karwatowski, David A. Collier, Mingzhi Zhang, Hreinn Stefansson

المصدر: Nature genetics. 42(10)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Open angle glaucoma, genetic structures, Genotype, Caveolin 2, Caveolin 1, Glaucoma, Genome-wide association study, Biology, Retinal ganglion, Polymorphism, Single Nucleotide, Article, Polymorphism (computer science), Ophthalmology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Aged, Aged, 80 and over, Genome, Human, Case-control study, Odds ratio, Middle Aged, medicine.disease, eye diseases, medicine.anatomical_structure, Case-Control Studies, Female, Trabecular meshwork, sense organs, Chromosomes, Human, Pair 7, Glaucoma, Open-Angle, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3eb64e7d5bbd90ce98d55a6ed18fc2aTest
https://pubmed.ncbi.nlm.nih.gov/20835238Test

المؤلفون: Sheng Xiu Liu, Hui Li, Xian Fa Tang, Haifeng Wang, Zai Xing Wang, Hou-Feng Zheng, Yi-Lin Cheng, Jian Wen Han, Xuejun Zhang, Xiao Yan Zhang, Qiao Yun Fang, Jianzhong Zhang, Zheng Zhang, Xiao Ming Liu, Hongyan Wang, Cheng Quan, Bao Qi Yang, Liangdan Sun, Fu Ren Zhang, Feng Li Xiao, Jian Qiang Yang, Lin Zhang, Song Ke Shen, Min Gao, Wen Sheng Lu, Fei Hao, Shu Mei Zhang, Chun Jun Yang, Hui Cheng, Yong Cui, Min Li, Xiong Ming Pu, Yu Zhen Li, Jie Zheng, Xinyi Lin, Fu Sheng Zhou, Qi Xing Zhu, Wei Dong Wu, Xin Zhang, Shun Lu, Jianjun Liu, Dan Ni Wang, Bi Hua Ji, Feng Yuan, Li Fan, Hong Jie Huang, Ting Ting Cao, Xianyong Yin, Jun He, Jun Lin Liu, Wei Ren, Chi Zhang, Wen Ming Zhou, Xing Fan, Kun Ju Zhu, Pei Guang Wang, Guo Shu Lin, An Ping Zhang, Da Lin, Chun Di He, Sen Yang, Xue Qin Yang, Wei Huang, Feng Yu Zhang, Li Min Xu, Bin Chen, Wen Hui Du

المصدر: Nature genetics. 41(2)

مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Adolescent, Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Major Histocompatibility Complex, Young Adult, Polymorphism (computer science), Cornified Envelope Proline-Rich Proteins, Genotype, Gene cluster, Genetics, Humans, Psoriasis, Genetic Predisposition to Disease, Child, Gene, Genetic association, Interleukin-12 Subunit p40, Middle Aged, Chromosomes, Human, Pair 1, Case-Control Studies, Multigene Family, Female, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb9a6f9d67ff718cace270ee4ee5f30Test
https://pubmed.ncbi.nlm.nih.gov/19169255Test