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1Academic Journal
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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2Academic JournalPPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
المؤلفون: Guimier, A., Achleitner, M.T., Bellaing, A. Moreau de, Edwards, M., Pontual, L. de, Mittal, K, Dunn, K.E., Grove, M.E., Tysoe, C.J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., Broek, F. van den, Chatterjee, D., Alston, C.L., Knowles, C.V., Brett, L., Till, J.A., Homfray, T., French, P., Spentzou, G., Elserafy, N.A., Lichkus, K.S., Sankaran, B.P., Kennedy, H.L., George, P.M., Kidd, A., Wortmann, S.B., Fisk, D.G., Koopmann, T.T., Rafiq, M.A., Merker, J.D., Parikh, S., Ahimaz, P., Weintraub, R.G., Ma, A.S., Turner, C., Ellaway, C.J., Phillips, L.K., Thorburn, D.R., Chung, W.K., Kana, S.L., Faye-Petersen, O.M., Thompson, M.L., Janin, A., McLeod, K., McGowan, R., McFarland, R., Girisha, K.M., Morris-Rosendahl, D.J., Hurst, A.C.E., Turner, C.L., Hamilton, R.M., Taylor, R.W., Bajolle, F., Gordon, C.T., Amiel, J., Mayr, J.A., Doudney, K.
المصدر: Genetics in Medicine, 23, 12, pp. 2415-2425
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/287939/287939.pdf; https://repository.ubn.ru.nl/handle/2066/287939
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3Academic Journal
المؤلفون: Ma, A.S., Grigg, J.R., Prokudin, I., Flaherty, M., Bennetts, B., Jamieson, R.V.
المساهمون: The Ophthalmic Research Institute of Australia
المصدر: Clinical Genetics ; volume 93, issue 1, page 155-159 ; ISSN 0009-9163 1399-0004