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1دورية أكاديمية
المؤلفون: Olayiwola, Joie O., Marhabaie, Mohammad, Koboldt, Daniel, Matthews, Theodora, Siemon, Amy, Mouhlas, Danielle, Porter, Taylor, Kyle, George, Myers, Cortlandt, Mei, Hui, Hou, Ying‐Chen Claire, Babcock, Melanie, Hunter, Jesse, Schieffer, Kathleen M., Akkari, Yassmine, Reshmi, Shalini, Cottrell, Catherine, Mathew, Mariam T., Leung, Marco L.
المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 3 ; ISSN 2324-9269 2324-9269
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2دورية أكاديمية
المؤلفون: Macke, Erica, Schieffer, Kathleen, Mathew, Mariam, Leung, Marco, Akkari, Yassmine, Babcock, Melanie, Claire Hou, Ying-Chen, Hernandez, Liana, Olberding, Jordan, Kopparapu, Prasad, Jayaraman, Vijayakumar, Corsmeier, Don, Howard, Jessica, Depoorter, Douglas, Zajo, Kristin, White, Peter, Kelly, Benjamin, Wilson, Richard, Mardis, Elaine, Cottrell, Catherine
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100089 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100089Test
https://api.elsevier.com/content/article/PII:S2949774423000894?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000894?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Goar, Wesley, Kuzma, Kori, Stahl, Kathryn, Voytovich, Kyle, Mathew, Mariam, Macke, Erica, Babcock, Melanie, Claire Hou, Ying-Chen, Hernandez, Liana, Olberding, Jordan, Kopparapu, Prasad, Jayaraman, Vijayakumar, Corsmeier, Don, Howard, Jessica, Depoorter, Douglas, Kubatko, Ashley, Lammi, Grant, Leung, Marco, Schieffer, Kathleen, Akkari, Yassmine, Mardis, Elaine, White, Peter, Cottrell, Catherine, Wagner, Alex
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100719 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100719Test
https://api.elsevier.com/content/article/PII:S2949774423007197?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423007197?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Babcock, Melanie, Lancaster, Emily, Ortiz, Damara, Bellissimo, Daniel, Powell, Evan, Yatsenko, Svetlana
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100471 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100471Test
https://api.elsevier.com/content/article/PII:S2949774423004715?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423004715?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Schieffer, Kathleen, Gordon, David, Wheeler, Gregory, Lammi, Grant, Corsmeier, Don, Depoorter, Douglas, Hernandez, Liana, Howard, Jessica, Jayaraman, Vijayakumar, Kopparapu, Prasad, Olberding, Jordan, Babcock, Melanie, Claire Hou, Ying-Chen, Leung, Marco, Mathew, Mariam, Akkari, Yassmine, White, Peter, Wilson, Richard, Mardis, Elaine, Cottrell, Catherine
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100057 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100057Test
https://api.elsevier.com/content/article/PII:S2949774423000572?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000572?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Mathew, Mariam T, Babcock, Melanie, Hou, Ying-Chen Claire, Hunter, Jesse M, Leung, Marco L, Mei, Hui, Schieffer, Kathleen, Akkari, Yassmine
المصدر: The Journal of Applied Laboratory Medicine ; volume 9, issue 1, page 61-75 ; ISSN 2475-7241
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1093/jalm/jfad086Test
https://academic.oup.com/jalm/article-pdf/9/1/61/54973741/jfad086.pdfTest -
7دورية أكاديمية
المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult
وصف الملف: application/pdf
العلاقة: https://www.repository.cam.ac.uk/handle/1810/367485Test; https://doi.org/10.17863/CAM.108059Test
الإتاحة: https://doi.org/10.17863/CAM.108059Test
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8دورية أكاديمية
المؤلفون: Verdoni, Angela, Hu, Jie, Surti, Urvashi, Babcock, Melanie, Sheehan, Elizabeth, Clemens, Michele, Drewes, Sarah, Walsh, Leslie, Clark, Rebecca, Katari, Sunita, Sanfilippo, Joe, Saller, Devereux N., Rajkovic, Aleksandar, Yatsenko, Svetlana A.
المصدر: Genetics in Medicine ; volume 23, issue 9, page 1753-1760 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-021-01195-wTest
https://www.nature.com/articles/s41436-021-01195-w.pdfTest
https://www.nature.com/articles/s41436-021-01195-wTest
https://api.elsevier.com/content/article/PII:S109836002105098X?httpAccept=text/xmlTest
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9دورية أكاديمية
المؤلفون: Goar, Wesley, Kuzma, Kori, Stahl, Kathryn, Voytovich, Kyle, Mathew, Mariam, Macke, Ericka, Babcock, Melanie, Hou, Ying-Chen Claire, Hernandez, Liana, Olberding, Jordan, Kopparapu, Prasad, Jayaraman, Vijayakumar, Corsmeier, Don, Howard, Jessica, Depoorter, Douglas, Kubatko, Ashley, Lammi, Grant, Leung, Marco, Schieffer, Kathleen, Akkari, Yassmine, Mardis, Elaine, White, Peter, Cottrell, Catherine, Wagner, Alex
المصدر: Cancer Genetics ; volume 278-279, page 18 ; ISSN 2210-7762
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.cancergen.2023.08.066Test
https://api.elsevier.com/content/article/PII:S2210776223001151?httpAccept=text/xmlTest
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10دورية أكاديمية
المؤلفون: Aarabi, Mahmoud, Baumann, Jacqueline, Babcock, Melanie, Kessler, Elena, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Hu, Jie, Ou, Zhishuo, Yatsenko, Svetlana
المصدر: Psychiatric Genetics ; volume 32, issue 5, page 171-177 ; ISSN 0955-8829