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1Academic Journal
المؤلفون: Paracha, S.A., Nawaz, S., Tahir Sarwar, M., Shaheen, A., Zaman, G., Ahmed, J., Shah, F., Khwaja, S., Jan, A., Khan, N., Kamal, M.A., Alam, Q., Abbas, S., Farman, S., Waqas, A., Alkathiri, A., Hamadi, A., Santoni, F., Ullah, N., Khalid, B., Antonarakis, S.E., Fakhro, K.A., Umair, M., Ansar, M.
المصدر: Frontiers in medicine, vol. 11, pp. 1424753
مصطلحات موضوعية: 30 families, ASPM, WES, consanguineous marriages, neurodevelopmental disorders, novel variants
Relation: info:eu-repo/semantics/altIdentifier/pmid/39281811; info:eu-repo/semantics/altIdentifier/pissn/2296-858X; https://serval.unil.ch/notice/serval:BIB_0769912C0633
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2Academic JournalGA4GH: International policies and standards for data sharing across genomic research and healthcare.
المؤلفون: Rehm, H.L., Page, AJH, Smith, L., Adams, J.B., Alterovitz, G., Babb, L.J., Barkley, M.P., Baudis, M., Beauvais, MJS, Beck, T., Beckmann, J.S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J.K., Boughtwood, T.F., Bourque, G., Bowers, S.R., Brookes, A.J., Brudno, M., Brush, M.H., Bujold, D., Burdett, T., Buske, O.J., Cabili, M.N., Cameron, D.L., Carroll, R.J., Casas-Silva, E., Chakravarty, D., Chaudhari, B.P., Chen, S.H., Cherry, J.M., Chung, J., Cline, M., Clissold, H.L., Cook-Deegan, R.M., Courtot, M., Cunningham, F., Cupak, M., Davies, R.M., Denisko, D., Doerr, M.J., Dolman, L.I., Dove, E.S., Dursi, L.J., Dyke, SOM, Eddy, J.A., Eilbeck, K., Ellrott, K.P., Fairley, S., Fakhro, K.A., Firth, H.V., Fitzsimons, M.S., Fiume, M., Flicek, P., Fore, I.M., Freeberg, M.A., Freimuth, R.R., Fromont, L.A., Fuerth, J., Gaff, C.L., Gan, W., Ghanaim, E.M., Glazer, D., Green, R.C., Griffith, M., Griffith, O.L., Grossman, R.L., Groza, T., Auvil, JMG, Guigó, R., Gupta, D., Haendel, M.A., Hamosh, A., Hansen, D.P., Hart, R.K., Hartley, D.M., Haussler, D., Hendricks-Sturrup, R.M., Ho, CWL, Hobb, A.E., Hoffman, M.M., Hofmann, O.M., Holub, P., Hsu, J.S., Hubaux, J.P., Hunt, S.E., Husami, A., Jacobsen, J.O., Jamuar, S.S., Janes, E.L., Jeanson, F., Jené, A., Johns, A.L., Joly, Y., Jones, SJM, Kanitz, A., Kato, K., Keane, T.M., Kekesi-Lafrance, K., Kelleher, J., Kerry, G., Khor, S.S., Knoppers, B.M., Konopko, M.A., Kosaki, K., Kuba, M., Lawson, J., Leinonen, R., Li, S., Lin, M.F., Linden, M., Liu, X., Udara Liyanage, I., Lopez, J., Lucassen, A.M., Lukowski, M., Mann, A.L., Marshall, J., Mattioni, M., Metke-Jimenez, A., Middleton, A., Milne, R.J., Molnár-Gábor, F., Mulder, N., Munoz-Torres, M.C., Nag, R., Nakagawa, H., Nasir, J., Navarro, A., Nelson, T.H., Niewielska, A., Nisselle, A., Niu, J., Nyrönen, T.H., O'Connor, B.D., Oesterle, S., Ogishima, S., Wang, V.O., Paglione, LAD, Palumbo, E., Parkinson, H.E., Philippakis, A.A., Pizarro, A.D., Prlic, A., Rambla, J., Rendon, A., Rider, R.A., Robinson, P.N., Rodarmer, K.W., Rodriguez, L.L., Rubin, A.F., Rueda, M., Rushton, G.A., Ryan, R.S., Saunders, G.I., Schuilenburg, H., Schwede, T., Scollen, S., Senf, A., Sheffield, N.C., Skantharajah, N., Smith, A.V., Sofia, H.J., Spalding, D., Spurdle, A.B., Stark, Z., Stein, L.D., Suematsu, M., Tan, P., Tedds, J.A., Thomson, A.A., Thorogood, A., Tickle, T.L., Tokunaga, K., Törnroos, J., Torrents, D., Upchurch, S., Valencia, A., Guimera, R.V., Vamathevan, J., Varma, S., Vears, D.F., Viner, C., Voisin, C., Wagner, A.H., Wallace, S.E., Walsh, B.P., Williams, M.S., Winkler, E.C., Wold, B.J., Wood, G.M., Woolley, J.P., Yamasaki, C., Yates, A.D., Yung, C.K., Zass, L.J., Zaytseva, K., Zhang, J., Goodhand, P., North, K., Birney, E.
المصدر: Cell genomics, vol. 1, no. 2, pp. 100029
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35072136; info:eu-repo/semantics/altIdentifier/eissn/2666-979X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0C82FBDFD2453; https://serval.unil.ch/notice/serval:BIB_0C82FBDFD245; https://serval.unil.ch/resource/serval:BIB_0C82FBDFD245.P001/REF.pdf
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3Academic Journal
المؤلفون: Roeflands, J., Kfuppen, P.J.K., Ahmed, E.I., Manll, R., Masoodi, T., Singh, P., Monaco, G., Raynaud, C., Miranda, N.F.C.C. de, Ferraro, L., Carneiro-Lobo, T.C., Syed, N., Rawat, A., Awad, A., Decock, J., Mifsud, W., Miller, L.D., Sherif, S., Mohamed, M.G., Rinchai, D., Eynde, M. van den, Sayaman, R.W., Ziv, E., Bertucci, F., Petkar, M.A., Lorenz, S., Mathew, L.S., Wang, K., Murugesan, S., Chaussabel, D., Vahrmeijer, A.L., Wang, E., Ceccarelli, A., Fakhro, K.A., Zoppoli, G., Ballestrero, A., Tollenaar, R.A.E.M., Marincola, F.M., Galon, J., Khodor, S. al, Ceccarelli, M., Hendrickx, W., Bedognetti, D.
المصدر: Nature Medicine
وصف الملف: application/pdf
Relation: lumc-id: 185285058; https://hdl.handle.net/1887/3722055
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4Academic Journal
المؤلفون: Pagnamenta, A.T., Kaiyrzhanov, R., Zou, Y., Da'as, S.I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M.P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M.A., Yip, J., Foley, A.R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C.L., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, A.R., Sarkozy, A., Reilly, M.M., Muntoni, F., Millan, F., Muraresku, C.C., Need, A.C., Nemeth, A.H., Neuhaus, S.B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S.W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K.A., Tajsharghi, H., Bönnemann, C.G., Taylor, J.C., Houlden, H.
المصدر: Brain, 144, 2, pp. 584-600
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/231705/231705.pdf; https://hdl.handle.net/2066/231705