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1دورية أكاديمية
المؤلفون: Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.
المساهمون: National Human Genome Research Institute, National Health and Medical Research Council, National Eye Institute
المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503
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2دورية أكاديمية
المؤلفون: Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bonnemann, Carsten G., MacArthur, Daniel G., GTEx Consortium, Han, Buhm
المساهمون: Han, Buhm
مصطلحات موضوعية: ENHANCERS ESES, RNA-SEQ, MUTATIONS, VARIANTS, GUIDELINES, TOOL
العلاقة: Science Translational Medicine, Vol.9 No.386, p. eaal5209; https://hdl.handle.net/10371/191533Test; 000399454600005; 2-s2.0-85018570855; 181323
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3دورية أكاديمية
المؤلفون: Bryen, Samantha J., Zhang, Katharine, Dziaduch, Gregory, Bommireddipalli, Shobhana, Naseri, Take, Reupena, Muagututi'a Sefuiva, Viali, Satupa'itea, Minster, Ryan L., Waddell, Leigh B., Charlton, Amanda, O'Grady, Gina L., Evesson, Frances J., Cooper, Sandra T.
المساهمون: Muscular Dystrophy Association, National Eye Institute, National Health and Medical Research Council, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health
المصدر: Clinical Genetics ; volume 103, issue 5, page 553-559 ; ISSN 0009-9163 1399-0004
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4دورية أكاديمية
المؤلفون: Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T
المساهمون: National Health and Medical Research Council of Australia, Muscular Dystrophy Association of the USA, National Human Genome Research Institute, National Eye Institute, National Heart, Lung and Blood Institute
المصدر: Human Molecular Genetics ; volume 32, issue 12, page 2084-2092 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1093/hmg/ddad035Test
https://academic.oup.com/hmg/article-pdf/32/12/2084/50654642/ddad035.pdfTest -
5دورية أكاديمية
المؤلفون: Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T., McCombe, Pamela A.
المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295
مصطلحات موضوعية: Neurology (clinical), Neurology
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6دورية أكاديمية
المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne
المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21
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7دورية أكاديمية
المؤلفون: Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.
المصدر: Human Genetics and Genomics Advances ; volume 3, issue 4, page 100125 ; ISSN 2666-2477
مصطلحات موضوعية: Genetics (clinical), Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100125Test
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko
مصطلحات موضوعية: info:eu-repo/classification/ddc
وصف الملف: application/pdf
العلاقة: https://mediatum.ub.tum.de/1625082Test; https://mediatum.ub.tum.de/doc/1625082/document.pdfTest
الإتاحة: https://doi.org/10.1038/s41436-021-01196-9Test
https://mediatum.ub.tum.de/1625082Test
https://mediatum.ub.tum.de/doc/1625082/document.pdfTest -
9دورية أكاديمية
المؤلفون: Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.
المصدر: Neurology Genetics ; volume 7, issue 1 ; ISSN 2376-7839
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10دورية أكاديمية
المؤلفون: Bryen, Samantha J., Oates, Emily C., Evesson, Frances J., Lu, Jessica K., Waddell, Leigh B., Joshi, Himanshu, Ryan, Monique M., Cummings, Beryl B., McLean, Catriona A., MacArthur, Daniel G., Kornberg, Andrew J., Cooper, Sandra T.
المساهمون: Department of Health | National Health and Medical Research Council
المصدر: European Journal of Human Genetics ; volume 29, issue 1, page 61-66 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-020-00715-7Test
https://www.nature.com/articles/s41431-020-00715-7.pdfTest
https://www.nature.com/articles/s41431-020-00715-7Test