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1تقرير
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2تقرير
المؤلفون: Brandfonbrener, David, Henniger, Simon, Raja, Sibi, Prasad, Tarun, Loughridge, Chloe, Cassano, Federico, Hu, Sabrina Ruixin, Yang, Jianang, Byrd, William E., Zinkov, Robert, Amin, Nada
مصطلحات موضوعية: Computer Science - Software Engineering, Computer Science - Artificial Intelligence, Computer Science - Machine Learning, Computer Science - Logic in Computer Science, Computer Science - Programming Languages
الوصول الحر: http://arxiv.org/abs/2402.08147Test
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3دورية أكاديمية
المؤلفون: Fecho, Karamarie, Bizon, Chris, Issabekova, Tursynay, Moxon, Sierra, Thessen, Anne E, Abdollahi, Shervin, Baranzini, Sergio E, Belhu, Basazin, Byrd, William E, Chung, Lawrence, Crouse, Andrew, Duby, Marc P, Ferguson, Stephen, Foksinska, Aleksandra, Forero, Laura, Friedman, Jennifer, Gardner, Vicki, Glusman, Gwênlyn, Hadlock, Jennifer, Hanspers, Kristina, Hinderer, Eugene, Hobbs, Charlotte, Hyde, Gregory, Huang, Sui, Koslicki, David, Mease, Philip, Muller, Sandrine, Mungall, Christopher J, Ramsey, Stephen A, Roach, Jared, Rubin, Irit, Schurman, Shepherd H, Shalev, Anath, Smith, Brett, Soman, Karthik, Stemann, Sarah, Su, Andrew I, Ta, Casey, Watkins, Paul B, Williams, Mark D, Wu, Chunlei, Xu, Colleen H, Consortium, The Biomedical Data Translator
المصدر: Journal of Clinical and Translational Science. 7(1)
مصطلحات موضوعية: Data Management and Data Science, Information and Computing Sciences, Artificial Intelligence, Autoimmune Disease, Rare Diseases, Translational research, team science, knowledge graphs, bioinformatics, semantic technology, Biomedical Data Translator Consortium
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/44b1x37hTest
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4دورية أكاديمية
المؤلفون: Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Jamra, Rami Abou, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Medicine, Rady Children's Institute for Genomic, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell’Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn
المصدر: Brain. 145(10)
مصطلحات موضوعية: Biotechnology, Brain Disorders, Genetics, Neurosciences, Clinical Research, Rare Diseases, Eye Disease and Disorders of Vision, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Child, Endocannabinoids, Phenotype, Nervous System Diseases, Heterozygote, Syndrome, Mutant Proteins, endocannabinoid, episodic ataxia, paroxysmal tonic upgaze, nystagmus, developmental delay, Rady Children's Institute for Genomic Medicine, Undiagnosed Disease Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1tp7967mTest
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5دورية أكاديمية
المؤلفون: Fecho, Karamarie, Thessen, Anne E, Baranzini, Sergio E, Bizon, Chris, Hadlock, Jennifer J, Huang, Sui, Roper, Ryan T, Southall, Noel, Ta, Casey, Watkins, Paul B, Williams, Mark D, Xu, Hao, Byrd, William, Dančík, Vlado, Duby, Marc P, Dumontier, Michel, Glusman, Gustavo, Harris, Nomi L, Hinderer, Eugene W, Hyde, Greg, Johs, Adam, Su, Andrew I, Qin, Guangrong, Zhu, Qian, Dougherty, Jennifer, Huang, Conrad, Magis, Andrew, Smith, Brett, Celebi, Remzi, Chen, Zhehuan, Azevedo, Ricardo De Miranda, Emonet, Vincent, Lee, Jay, Weng, Chunhua, Yilmaz, Arif, Kim, Keum Joo, Santos, Eugene, Tonstad, Lucas, Veenhuis, Luke, Yakaboski, Chase, Acevedo, Liliana, Carrell, Steven, Deutsch, Eric, Glen, Amy, Hoffman, Andrew, Koslicki, David, Kvarfordt, Lindsey, Liu, Zheng, Liu, Shaopeng, Ma, Chunyu, Mendoza, Luis, Muluka, Arun Teja, Womack, Finn, Wood, Erica, Roach, Jared, Goel, Prateek, Weber, Rosina, Williams, Andrew, Gormley, Joseph, Zisk, Tom, Hanspers, Kristina, Hoatlin, Maureen, Pico, Alexander, Riutta, Anders, Callaghan, Jackson, Xu, Colleen, Ahalt, Stanley C, Balhoff, Jim, Edwards, Stephen, Haaland, Perry, Knowles, Michael, Krishnamurthy, Ashok, Mandal, Meisha, Peden, David B, Pfaff, Emily, Schurman, Shepherd, Shrivastava, Shalki, Yi, Hong, Reilly, Jason, Kanwar, Richa, Cox, Steven, Vaidya, Gaurav, Wang, Max, Alkanaq, Ahmed, Costanzo, Maria, Koesterer, Ryan, Flannick, Jason, Burtt, Noel, Kluge, Alexandria, Rubin, Irit, Strasser, Michael Michi, Chung, Lawrence, Kang, Jimin, Mantilla, Michelle, Muller, Sandrine, Persaud, Bria, Wei, Qi, Baumgartner, Andrew, Dai, Cheng, Duvvuri, Venkata
المصدر: Clinical and Translational Science. 15(8)
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Biomedical Data Translator Consortium, Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis, Other Medical and Health Sciences, General Clinical Medicine, Cardiovascular medicine and haematology, Pharmacology and pharmaceutical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8kx506bkTest
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6دورية أكاديمية
المؤلفون: Unni, Deepak R, Moxon, Sierra AT, Bada, Michael, Brush, Matthew, Bruskiewich, Richard, Caufield, J Harry, Clemons, Paul A, Dancik, Vlado, Dumontier, Michel, Fecho, Karamarie, Glusman, Gustavo, Hadlock, Jennifer J, Harris, Nomi L, Joshi, Arpita, Putman, Tim, Qin, Guangrong, Ramsey, Stephen A, Shefchek, Kent A, Solbrig, Harold, Soman, Karthik, Thessen, Anne E, Haendel, Melissa A, Bizon, Chris, Mungall, Christopher J, Consortium, The Biomedical Data Translator, Acevedo, Liliana, Ahalt, Stanley C, Alden, John, Alkanaq, Ahmed, Amin, Nada, Avila, Ricardo, Balhoff, Jim, Baranzini, Sergio E, Baumgartner, Andrew, Baumgartner, William, Belhu, Basazin, Brandes, MacKenzie, Brandon, Namdi, Burtt, Noel, Byrd, William, Callaghan, Jackson, Cano, Marco Alvarado, Carrell, Steven, Celebi, Remzi, Champion, James, Chen, Zhehuan, Chen, Mei‐Jan, Chung, Lawrence, Cohen, Kevin, Conlin, Tom, Corkill, Dan, Costanzo, Maria, Cox, Steven, Crouse, Andrew, Crowder, Camerron, Crumbley, Mary E, Dai, Cheng, Dančík, Vlado, De Miranda Azevedo, Ricardo, Deutsch, Eric, Dougherty, Jennifer, Duby, Marc P, Duvvuri, Venkata, Edwards, Stephen, Emonet, Vincent, Fehrmann, Nathaniel, Flannick, Jason, Foksinska, Aleksandra M, Gardner, Vicki, Gatica, Edgar, Glen, Amy, Goel, Prateek, Gormley, Joseph, Greyber, Alon, Haaland, Perry, Hanspers, Kristina, He, Kaiwen, Henrickson, Jeff, Hinderer, Eugene W, Hoatlin, Maureen, Hoffman, Andrew, Huang, Sui, Huang, Conrad, Hubal, Robert, Huellas‐Bruskiewicz, Kenneth, Huls, Forest B, Hunter, Lawrence, Hyde, Greg, Issabekova, Tursynay, Jarrell, Matthew, Jenkins, Lindsay, Johs, Adam, Kang, Jimin, Kanwar, Richa, Kebede, Yaphet, Kim, Keum Joo, Kluge, Alexandria, Knowles, Michael, Koesterer, Ryan
المصدر: Clinical and Translational Science. 15(8)
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Networking and Information Technology R&D (NITRD), Data Science, 2.6 Resources and infrastructure (aetiology), Aetiology, Generic health relevance, Knowledge, Pattern Recognition, Automated, Translational Science, Biomedical, Biomedical Data Translator Consortium, Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis, Other Medical and Health Sciences, General Clinical Medicine, Cardiovascular medicine and haematology, Pharmacology and pharmaceutical sciences
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G
المصدر: Genetics in Medicine. 24(7)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A
المصدر: Journal of Genetic Counseling. 31(1)
مصطلحات موضوعية: Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/76z1t0c4Test
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9مورد إلكتروني
المؤلفون: Unni, Deepak R., Moxon, Sierra A. T., Bada, Michael, Brush, Matthew, Bruskiewich, Richard, Caufield, J. Harry, Clemons, Paul A., Dancik, Vlado, Dumontier, Michel, Fecho, Karamarie, Glusman, Gustavo, Hadlock, Jennifer J., Harris, Nomi L., Joshi, Arpita, Putman, Tim, Qin, Guangrong, Ramsey, Stephen A., Shefchek, Kent A., Solbrig, Harold, Soman, Karthik, Thessen, Anne E., Haendel, Melissa A., Bizon, Chris, Mungall, Christopher J., Acevedo, Liliana, Ahalt, Stanley C., Alden, John, Alkanaq, Ahmed, Amin, Nada, Avila, Ricardo, Balhoff, Jim, Baranzini, Sergio E., Baumgartner, Andrew, Baumgartner, William, Belhu, Basazin, Brandes, MacKenzie, Brandon, Namdi, Burtt, Noel, Byrd, William, Callaghan, Jackson, Cano, Marco Alvarado, Carrell, Steven, Celebi, Remzi, Champion, James, Chen, Zhehuan, Chen, Mei‐Jan, Chung, Lawrence, Cohen, Kevin, Conlin, Tom, Corkill, Dan
العلاقة: https://github.com/biolink/biolink-model/tree/v4.2.1Test; https://dx.doi.org/10.5281/zenodo.7992534Test; https://dx.doi.org/10.5281/zenodo.5207522Test; https://dx.doi.org/10.5281/zenodo.8102952Test; https://dx.doi.org/10.5281/zenodo.6463614Test; https://dx.doi.org/10.5281/zenodo.10779176Test; https://dx.doi.org/10.5281/zenodo.7830128Test; https://dx.doi.org/10.5281/zenodo.10694421Test; https://dx.doi.org/10.5281/zenodo.7872691Test; https://dx.doi.org/10.5281/zenodo.10393034Test; https://dx.doi.org/10.5281/zenodo.10729895Test; https://dx.doi.org/10.5281/zenodo.8237479Test; https://dx.doi.org/10.5281/zenodo.6819304Test; https://dx.doi.org/10.5281/zenodo.7964281Test; https://dx.doi.org/10.5281/zenodo.4895425Test; https://dx.doi.org/10.5281/zenodo.10814837Test; https://dx.doi.org/10.5281/zenodo.4586916Test; https://dx.doi.org/10.5281/zenodo.6903401Test; https://dx.doi.org/10.5281/zenodo.6812465Test; https://dx.doi.org/10.5281/zenodo.10811107Test
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10دورية أكاديمية
المؤلفون: Lu, Jinfeng, Toro, Camilo, Adams, David R., Acosta, Maria T., Adam, Margaret, Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R.
المساهمون: National Institutes of Health
المصدر: BMC Genomics ; volume 25, issue 1 ; ISSN 1471-2164
مصطلحات موضوعية: Genetics, Biotechnology