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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: Harripaul, Ricardo, Morini, Elisabetta, Salani, Monica, Logan, Emily, Kirchner, Emily, Bolduc, Jessica, Chekuri, Anil, Currall, Benjamin, Yadav, Rachita, Erdin, Serkan, Talkowski, Michael E., Gao, Dadi, Slaugenhaupt, Susan
المساهمون: National Institutes of Health
المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-023-51137-6Test
https://www.nature.com/articles/s41598-023-51137-6.pdfTest
https://www.nature.com/articles/s41598-023-51137-6Test -
3دورية أكاديمية
المؤلفون: Amirali, Ayaaz, Babler, Kristina M., Sharkey, Mark E., Beaver, Cynthia C., Boone, Melinda M., Comerford, Samuel, Cooper, Daniel, Currall, Benjamin B., Goodman, Kenneth W., Grills, George S., Kobetz, Erin, Kumar, Naresh, Laine, Jennifer, Lamar, Walter E., Mason, Christopher E., Reding, Brian D., Roca, Matthew A., Ryon, Krista, Schürer, Stephan C., Shukla, Bhavarth S., Solle, Natasha Schaefer, Stevenson, Mario, Tallon, John J., Vidović, Dušica, Williams, Sion L., Yin, Xue, Solo-Gabriele, Helena M.
المساهمون: National Institutes of Health, Alfred P Sloan Foundation
المصدر: Science of The Total Environment ; volume 918, page 170452 ; ISSN 0048-9697
مصطلحات موضوعية: Pollution, Waste Management and Disposal, Environmental Chemistry, Environmental Engineering
الإتاحة: https://doi.org/10.1016/j.scitotenv.2024.170452Test
https://api.elsevier.com/content/article/PII:S0048969724005898?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0048969724005898?httpAccept=text/plainTest -
4دورية أكاديميةParallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries
المؤلفون: Nuttle, Xander, Burt, Nicholas D., Currall, Benjamin, Moysés-Oliveira, Mariana, Mohajeri, Kiana, Bhavsar, Riya, Lucente, Diane, Yadav, Rachita, Tai, Derek J.C., Gusella, James F., Talkowski, Michael E.
المصدر: Cell Reports Methods ; volume 4, issue 1, page 100672 ; ISSN 2667-2375
مصطلحات موضوعية: Computer Science Applications, Radiology, Nuclear Medicine and imaging, Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous), Biochemistry, Biotechnology
الإتاحة: https://doi.org/10.1016/j.crmeth.2023.100672Test
https://api.elsevier.com/content/article/PII:S266723752300351X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S266723752300351X?httpAccept=text/plainTest -
5دورية 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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6دورية أكاديمية
المؤلفون: Duyzend, Michael, Brand, Harrison, Whelan, Christopher, Lemanski, John, Salani, Monica, Hao, Stephanie, Wong, Isaac, Valkanas, Elise, Cusick, Caroline, Dobson, Lori, Studwell, Courtney, Gianforcaro, Kathleen, Guseh, Stephanie, Currall, Benjamin, Gray, Kathryn, Talkowski, Michael
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100646 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100646Test
https://api.elsevier.com/content/article/PII:S2949774423006465?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423006465?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100188 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100188Test
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/plainTest -
8دورية 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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9دورية أكاديمية
المؤلفون: Tai, Derek J.C., Razaz, Parisa, Erdin, Serkan, Gao, Dadi, Wang, Jennifer, Nuttle, Xander, de Esch, Celine E., Collins, Ryan L., Currall, Benjamin B., O’Keefe, Kathryn, Burt, Nicholas D., Yadav, Rachita, Wang, Lily, Mohajeri, Kiana, Aneichyk, Tatsiana, Ragavendran, Ashok, Stortchevoi, Alexei, Morini, Elisabetta, Ma, Weiyuan, Lucente, Diane, Hastie, Alex, Kelleher, Raymond J., Perlis, Roy H., Talkowski, Michael E., Gusella, James F.
المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 619 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.02.006Test
https://api.elsevier.com/content/article/PII:S0002929724000387?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000387?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Mohajeri, Kiana, Yadav, Rachita, D'haene, Eva, Boone, Philip M., Erdin, Serkan, Gao, Dadi, Moyses-Oliveira, Mariana, Bhavsar, Riya, Currall, Benjamin B., O'Keefe, Kathryn, Burt, Nicholas D., Lowther, Chelsea, Lucente, Diane, Salani, Monica, Larson, Mathew, Redin, Claire, Dudchenko, Olga, Aiden, Erez Lieberman, Menten, Björn, Tai, Derek J.C., Gusella, James F., Vergult, Sarah, Talkowski, Michael E.
المصدر: The American Journal of Human Genetics ; volume 109, issue 11, page 2049-2067 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.015Test
https://api.elsevier.com/content/article/PII:S0002929722004487?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722004487?httpAccept=text/plainTest