يعرض 1 - 20 نتائج من 1,061 نتيجة بحث عن '"Ljungdahl, Å"', وقت الاستعلام: 0.59s تنقيح النتائج
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    المؤلفون: Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L, Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C, Ganesh, Vijay S, Ma, Jialan, Ellingford, Jamie M, Delage, Erwan, D'Souza, Elston N, Dong, Shan, Adams, David R, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Coman, David J, Compton, Alison G, Cunningham, Chloe A, D'Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C, Dias, Kerith-Rae, Elias, Ellen R, Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Goriely, Anne, Grant, Christina L, Haack, Tobias, Higgs, Jenny E, Hinch, Anjali G, Hurles, Matthew E, Kuechler, Alma, Lachlan, Katherine L, Lalani, Seema R, Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lindsay, Sarah, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Mansour, Sahar, Maurer, Taylor M, Mendez, Hector R, Metcalfe, Kay, Montgomery, Stephen B, Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O'Donoghue, Michael, O'Leary, Melanie, Palmer, Elizabeth E, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L, Reuter, Chloe M, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A, Sachdev, Rani, Shaw-Smith, Charles J, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna E L, Thorburn, David R, Tifft, Cynthia J, Uebergang, Eloise, VanNoy, Grace E, Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Wright, Caroline F, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna M M, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola

    المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

    المصدر: Nature, Vol. 632, no.8026, p. 832-840 (2024)

    Relation: boreal:296800; http://hdl.handle.net/2078.1/296800; info:pmid/38991538

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    المؤلفون: Chen, Y., Dawes, R., Kim, H.C., Ljungdahl, A., Stenton, S.L., Walker, S., Lord, J., Lemire, G., Martin-Geary, A.C., Ganesh, V.S., Ma, J., Ellingford, J.M., Delage, E., D’Souza, E.N., Dong, S., Adams, D.R., Allan, K., Bakshi, M., Baldwin, E.E., Berger, S.I., Bernstein, J.A., Bhatnagar, I., Blair, E., Brown, N.J., Burrage, L.C., Chapman, K., Coman, D.J., Compton, A.G., Cunningham, C.A., D’Souza, P., Danecek, P., Délot, E.C., Dias, K.-R., Elias, E.R., Elmslie, F., Evans, C.-A., Ewans, L., Ezell, K., Fraser, J.L., Gallacher, L., Genetti, C.A., Goriely, A., Grant, C.L., Haack, T., Higgs, J.E., Hinch, A.G., Hurles, M.E., Kuechler, A., Lachlan, K.L., Lalani, S.R., Lecoquierre, F., Leitão, E., Fevre, A.L., Leventer, R.J., Liebelt, J.E., Lindsay, S., Lockhart, P.J., Ma, A.S., Macnamara, E.F., Mansour, S., Maurer, T.M., Mendez, H.R., Metcalfe, K., Montgomery, S.B., Moosajee, M., Nassogne, M.-C., Neumann, S., O’Donoghue, M., O’Leary, M., Palmer, E.E., Pattani, N., Phillips, J., Pitsava, G., Pysar, R., Rehm, H.L., Reuter, C.M., Revencu, N., Riess, A., Rius, R., Rodan, L., Roscioli, T., Rosenfeld, J.A., Sachdev, R., Shaw-Smith, C.J., Simons, C., Sisodiya, S.M., Snell, P., St Clair, L., Stark, Z., Stewart, H.S., Tan, T.Y., Tan, N.B., Temple, S.E.L., Thorburn, D.R., Tifft, C.J., Uebergang, E., VanNoy, G.E., Vasudevan, P., Vilain, E., Viskochil, D.H., Wedd, L., Wheeler, M.T., White, S.M., Wojcik, M., Wolfe, L.A., Wolfenson, Z., Wright, C.F., Xiao, C., Zocche, D., Rubenstein, J.L., Markenscoff-Papadimitriou, E., Fica, S.M., Baralle, D., Depienne, C., MacArthur, D.G., Howson, J.M.M., Sanders, S.J., O’Donnell-Luria, A., Whiffin, N.

    وصف الملف: text

    Relation: https://eprints.whiterose.ac.uk/214723/38/s41586-024-07773-7.pdf; Chen, Y. orcid.org/0000-0001-5593-6920 , Dawes, R. orcid.org/0000-0003-2135-0117 , Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

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    المساهمون: Vetenskapsrådet, HORIZON EUROPE Framework Programme

    المصدر: Molecular Microbiology ; volume 121, issue 4, page 696-716 ; ISSN 0950-382X 1365-2958

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    المصدر: Modern Stochastics: Theory and Applications 2018, Vol. 5, No. 3, 297-316

    مصطلحات موضوعية: Mathematics - Probability

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