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1دورية أكاديمية
المؤلفون: Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica, Wang, Harold, Currall, Benjamin, OKeefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir, Whelan, Christopher, Hao, Stephanie, Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan, Zhao, Xuefang, Austin-Tse, Christina, Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla, Lucente, Diane, Gauthier, Laura, Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, MacKenzie, Tippi, Devlin, Bernie, Gilmore, Kelly, Powell, Bradford, Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, MacArthur, Daniel, Hodge, Jennelle, ODonnell-Luria, Anne, Rehm, Heidi, Vora, Neeta, Levy, Brynn, Brand, Harrison, Wapner, Ronald, Talkowski, Michael, Norton, Mary, Sanders, Stephan
المصدر: American Journal of Human Genetics. 110(9)
مصطلحات موضوعية: genome sequencing, karyotype, microarray, exome sequencing, structural variant, autism spectrum disorder, structural anomaly, prenatal, first-tier, diagnostic, Female, Pregnancy, Humans, Autism Spectrum Disorder, Pregnancy Trimester, First, Ultrasonography, Prenatal, Chromosome Mapping, Exome
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2m24g89pTest
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2دورية أكاديمية
المؤلفون: Belyeu, Jonathan R, Brand, Harrison, Wang, Harold, Zhao, Xuefang, Pedersen, Brent S, Feusier, Julie, Gupta, Meenal, Nicholas, Thomas J, Brown, Joseph, Baird, Lisa, Devlin, Bernie, Sanders, Stephan J, Jorde, Lynn B, Talkowski, Michael E, Quinlan, Aaron R
المصدر: American Journal of Human Genetics. 108(4)
مصطلحات موضوعية: Genetics, Biotechnology, Human Genome, Pediatric, Contraception/Reproduction, Brain Disorders, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Aging, Autistic Disorder, Bias, DNA Copy Number Variations, DNA Mutational Analysis, Family, Female, Genome, Human, Germ Cells, Germ-Line Mutation, Humans, Male, Mutation Rate, Paternal Age, Point Mutation, autism, copy number variation, de novo mutation, genetic diversity, genomic structure, genomics, germline mutation, structural variation, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7xn3t8vvTest
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3دورية أكاديمية
المؤلفون: Collins, Ryan L, Brand, Harrison, Karczewski, Konrad J, Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C, Khera, Amit V, Lowther, Chelsea, Gauthier, Laura D, Wang, Harold, Watts, Nicholas A, Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W, Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R, Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M, Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D, Lin, Henry J, Rich, Stephen S, Post, Wendy S, Chen, Yii-Der Ida, Rotter, Jerome I, Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M, Kathiresan, Sekar, Daly, Mark J, Banks, Eric, MacArthur, Daniel G, Talkowski, Michael E
المصدر: Nature. 581(7809)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Generic health relevance, Disease, Female, Genetic Testing, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Racial Groups, Reference Standards, Selection, Genetic, Whole Genome Sequencing, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/25h6t9dpTest
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4دورية أكاديمية
المؤلفون: An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna M, Dong, Shan, Brand, Harrison, Wang, Harold Z, Zhao, Xuefang, Schwartz, Grace B, Collins, Ryan L, Currall, Benjamin B, Dastmalchi, Claudia, Dea, Jeanselle, Duhn, Clif, Gilson, Michael C, Klei, Lambertus, Liang, Lindsay, Markenscoff-Papadimitriou, Eirene, Pochareddy, Sirisha, Ahituv, Nadav, Buxbaum, Joseph D, Coon, Hilary, Daly, Mark J, Kim, Young Shin, Marth, Gabor T, Neale, Benjamin M, Quinlan, Aaron R, Rubenstein, John L, Sestan, Nenad, State, Matthew W, Willsey, A Jeremy, Talkowski, Michael E, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J
المصدر: Science. 362(6420)
مصطلحات موضوعية: Human Genome, Genetics, Biotechnology, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Autism, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Binding Sites, Conserved Sequence, DNA Mutational Analysis, Genetic Loci, Genetic Variation, Humans, Mutation, Pedigree, Promoter Regions, Genetic, Risk, Transcription Factors, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3476g3p5Test
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5دورية أكاديمية
المؤلفون: Guttman, Dan, Young, Oran, Jing, Yijia, Bramble, Barbara, Bu, Maoliang, Chen, Carmen, Furst, Kathinka, Hu, Tao, Li, Yifei, Logan, Kate, Liu, Lingxuan, Price, Lydia, Spencer, Michael, Suh, Sangwon, Sun, Xiaopu, Tan, Bowen, Wang, Harold, Wang, Xin, Zhang, Juan, Zhang, Xinxin, Zeidan, Rodrigo
مصطلحات موضوعية: Peace, Justice and Strong Institutions, China, Environmental Policy, Government, Government Programs, Humans, Nonstate actors, Environmental governance, she hui tuanti, shi ye danwei, Belt and Road initiative, Environmental Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1pd3847hTest
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6دورية أكاديمية
المؤلفون: Werling, Donna M, Brand, Harrison, An, Joon-Yong, Stone, Matthew R, Zhu, Lingxue, Glessner, Joseph T, Collins, Ryan L, Dong, Shan, Layer, Ryan M, Markenscoff-Papadimitriou, Eirene, Farrell, Andrew, Schwartz, Grace B, Wang, Harold Z, Currall, Benjamin B, Zhao, Xuefang, Dea, Jeanselle, Duhn, Clif, Erdman, Carolyn A, Gilson, Michael C, Yadav, Rachita, Handsaker, Robert E, Kashin, Seva, Klei, Lambertus, Mandell, Jeffrey D, Nowakowski, Tomasz J, Liu, Yuwen, Pochareddy, Sirisha, Smith, Louw, Walker, Michael F, Waterman, Matthew J, He, Xin, Kriegstein, Arnold R, Rubenstein, John L, Sestan, Nenad, McCarroll, Steven A, Neale, Benjamin M, Coon, Hilary, Willsey, A Jeremy, Buxbaum, Joseph D, Daly, Mark J, State, Matthew W, Quinlan, Aaron R, Marth, Gabor T, Roeder, Kathryn, Devlin, Bernie, Talkowski, Michael E, Sanders, Stephan J
المصدر: Nature Genetics. 50(5)
مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Autism, Biotechnology, Mental Health, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Autism Spectrum Disorder, Female, Genetic Predisposition to Disease, Genome, Genome-Wide Association Study, Humans, INDEL Mutation, Male, Polymorphism, Single Nucleotide, Protein Isoforms, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/29v6r8tvTest
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7دورية أكاديمية
المؤلفون: Chen, Xinxin, Giles, John, Yao, Yao, Yip, Winnie, Meng, Qinqin, Berkman, Lisa, Chen, He, Chen, Xi, Feng, Jin, Feng, Zhanlian, Glinskaya, Elena, Gong, Jinquan, Hu, Perry, Kan, Haidong, Lei, Xiaoyan, Liu, Xiao, Steptoe, Andrew, Wang, Gewei, Wang, Harold, Wang, Huali, Wang, Xiaoyu, Wang, Yafeng, Yang, Li, Zhang, Luxia, Zhang, Quan, Wu, Jing, Wu, Zunyou, Strauss, John, Smith, James, Zhao, Yaohui
المصدر: Lancet , 400 (10367) pp. 1967-2006. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10194295/1/nihms-1853347.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10194295Test/
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8دورية أكاديمية
المؤلفون: Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.
المصدر: Nature ; volume 590, issue 7846, page E55-E55 ; ISSN 0028-0836 1476-4687
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41586-020-03176-6Test
http://www.nature.com/articles/s41586-020-03176-6.pdfTest
http://www.nature.com/articles/s41586-020-03176-6Test -
9دورية أكاديمية
المؤلفون: Zhao, Xuefang, Collins, Ryan L., Lee, Wan-Ping, Weber, Alexandra M., Jun, Yukyung, Zhu, Qihui, Weisburd, Ben, Huang, Yongqing, Audano, Peter A., Wang, Harold, Walker, Mark, Lowther, Chelsea, Fu, Jack, Gerstein, Mark B., Devine, Scott E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Chaisson, Mark J.P., Lee, Charles, Mills, Ryan E., Brand, Harrison, Talkowski, Michael E.
المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 919-928 ; ISSN 0002-9297
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.014Test
https://api.elsevier.com/content/article/PII:S0002929721000987?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721000987?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent, Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry
مصطلحات موضوعية: 3111 Biomedicine
وصف الملف: fulltext
العلاقة: 7809; 581; ORCID: /0000-0002-2555-4427/work/127420516; https://trepo.tuni.fi/handle/10024/128027Test; URN:NBN:fi:tuni-202101111172