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1Academic Journal
المؤلفون: Loviglio, M.N., Beck, C.R., White, J.J., Leleu, M., Harel, T., Guex, N., Niknejad, A., Bi, W., Chen, E.S., Crespo, I., Yan, J., Charng, W.L., Gu, S., Fang, P., Coban-Akdemir, Z., Shaw, C.A., Jhangiani, S.N., Muzny, D.M., Gibbs, R.A., Rougemont, J., Xenarios, I., Lupski, J.R., Reymond, A.
المصدر: Genome medicine, vol. 8, no. 1, pp. 105
مصطلحات موضوعية: Chromatin conformation, Diagnostic, Disease network, Intellectual disability, Text mining
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/27799067; info:eu-repo/semantics/altIdentifier/eissn/1756-994X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1820D72F7FFD2; https://serval.unil.ch/notice/serval:BIB_1820D72F7FFD; https://serval.unil.ch/resource/serval:BIB_1820D72F7FFD.P001/REF.pdf
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2Academic Journal
المؤلفون: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, W.L., Lu, Shenzhao, Pfundt, R.P., Koolen, D.A., Haaxma, C.A., Wevers, M.R., Bellen, Hugo J., Tan, Queenie K-G
المصدر: American Journal of Human Genetics, 108, 9, pp. 1669-1691
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
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3Academic Journal
المؤلفون: Eldomery, M.K., Akdemir, Z.C., Vogtle, F.N., Charng, W.L., Mulica, P., Rosenfeld, J.A., Gambin, T., Gu, S., Burrage, L.C., Shamsi, A. Al, Penney, S., Jhangiani, S.N., Zimmerman, H.H., Muzny, D.M., Wang, X., Tang, J., Medikonda, R., Ramachandran, P.V., Wong, L.J., Boerwinkle, E., Gibbs, R.A., Eng, C.M., Lalani, S.R., Hertecant, J., Rodenburg, R.J.T., Abdul-Rahman, O.A., Yang, Y, Xia, F., Wang, M.C., Lupski, J.R., Meisinger, C., Sutton, V.R.
المصدر: Genome Medicine, 8, 1, pp. 106
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/170911/170911.pdf; http://hdl.handle.net/2066/170911; https://doi.org/10.1186/s13073-016-0360-6
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4Academic Journal
المؤلفون: Burrage, L.C., Charng, W.L., Eldomery, M.K., Willer, J.R., Davis, E.E., Lugtenberg, D., Zhu, W., Leduc, M.S., Akdemir, Z.C., Azamian, M., Zapata, G., Hernandez, P.P., Schoots, J., Munnik, S.A. de, Roepman, R., Pearring, J.N., Jhangiani, S., Katsanis, N., Vissers, L.E.L.M., Brunner, H.G., Beaudet, A.L., Rosenfeld, J.A., Muzny, D.M., Gibbs, R.A., Eng, C.M., Xia, F., Lalani, S.R., Lupski, J.R., Bongers, E.M.H.F., Yang, Y
المصدر: American Journal of Human Genetics, 97, 6, pp. 904-13
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/152097/152097.pdf; http://hdl.handle.net/2066/152097
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5Academic Journal
المؤلفون: Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J.
المصدر: Cell, 159, 1, pp. 200-14
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Relation: http://hdl.handle.net/2066/138721