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1دورية أكاديمية
المؤلفون: Laan, L. van der, Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M.A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A.K., Li, D., Vissers, L.E.L.M., Dingemans, A.J.M., Valenzuela, I., Verberne, E.A., Misra-Isrie, M., Zwijnenburg, P.J., Waisfisz, Q., Alders, M., Sailer, S., Schaaf, C.P., Mannens, M., Sadikovic, B., Haelst, M.M. van, Henneman, P.
المصدر: Genetics in Medicine, 26, 3, pp. 101050
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders Human Genetics
الإتاحة: https://doi.org/10.1016/j.gim.2023.101050Test
https://repository.ubn.ru.nl/handle/2066/305178Test -
2دورية أكاديمية
المؤلفون: Karimi, K., Mol, M.O., Haghshenas, S., Relator, R., Levy, M.A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E.H., Tedder, M.L., Vissers, L.E.L.M., Salzano, E., Piccione, M., Asaftei, S.D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S., Brusco, A., Merla, G., Alders, M.M., Bouman, Arjan, Sadikovic, B.
المصدر: Genetics in Medicine, 26, 3, pp. 101041
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders Human Genetics
الإتاحة: https://doi.org/10.1016/j.gim.2023.101041Test
https://repository.ubn.ru.nl/handle/2066/304262Test -
3دورية أكاديمية
المؤلفون: Radio, F.C., Pang, K.F., Ciolfi, A., Levy, M.A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z.D., de Boer, E., Jackson, A., Bruselles, A., McConkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M.L., McWalter, K., Desai, M., Monaghan, K.G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P.A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., MacKenzie, J.J., Monteleone, B., Saunders, C.J., Cuevas, J.K.J., Cross, L., Zhou, D.H., Hartley, T., Sawyer, S.L., Monteiro, F.P., Secches, T.V., Kok, F., Schultz-Rogers, L.E., Macke, E.L., Morava, E., Klee, E.W., Kemppainen, J., Iascone, M., Selicorni, A., Stegmann, A.P.A., Tartaglia, Marco
المصدر: Radio , F C , Pang , K F , Ciolfi , A , Levy , M A , Hernandez-Garcia , A , Pedace , L , Pantaleoni , F , Liu , Z D , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A ....
مصطلحات موضوعية: SPLIT-ENDS, MONOSOMY 1P36, MOLECULAR CHARACTERIZATION, PHENOTYPE CORRELATIONS, REVEALS, SHARP, MUTATIONS, PROTEIN, GENE, IDENTIFICATION
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.015Test
https://cris.maastrichtuniversity.nl/en/publications/d6d74fa8-dbaf-458e-9162-ab62c769eb62Test -
4دورية أكاديمية
المؤلفون: Coenen-van der Spek, J., Relator, Raissa, Kerkhof, J., McConkey, H., Levy, M.A., Tedder, M., Kolk, S.M., Dingemans, A.J.M., Pfundt, R.P., Kleefstra, T., Butler, K.
المصدر: Genetics in Medicine, 25, 1, pp. 63-75
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Molecular Neurobiology, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290129/290129.pdfTest; https://repository.ubn.ru.nl/handle/2066/290129Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.10.004Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290129/290129.pdfTest
https://repository.ubn.ru.nl/handle/2066/290129Test -
5دورية أكاديمية
المؤلفون: Jaarsveld, R.H. van, Reilly, J., Cornips, M.C., Hadders, M.A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S.A., Binsbergen, E. van, Boogaard, M.J. van den, Brischoux-Boucher, E., Caylor, R.C., Ciolfi, A., Essen, T.A. van, Fontana, P., Hopman, S., Iascone, M., Javier, M.M., Kamsteeg, E.J., Kerkhof, J., Kido, J., Kim, H.G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M.A., Lewis, M.E.S., Lichty, A., Mannens, M.M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R.P., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J.H., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C.A., Yosovich, K., Yuskaitis, C.J., Zampino, G., Sadikovic, B., Alders, M., Oegema, R.
المصدر: Genetics in Medicine, 25, 1, pp. 49-62
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290808/290808.pdfTest; https://repository.ubn.ru.nl/handle/2066/290808Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.006Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290808/290808.pdfTest
https://repository.ubn.ru.nl/handle/2066/290808Test -
6دورية أكاديمية
المؤلفون: Verberne, E.A., Laan, L. van der, Haghshenas, S., Rooney, K., Levy, M.A., Alders, M., Koolen, D.A., Pfundt, R.P., Henneman, Peter, Haelst, Mieke M. van
المصدر: International Journal of Molecular Sciences, 23, 14
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/253042/253042.pdfTest; https://repository.ubn.ru.nl/handle/2066/253042Test; https://doi.org/10.3390/ijms23148001Test
الإتاحة: https://doi.org/10.3390/ijms23148001Test
https://repository.ubn.ru.nl//bitstream/handle/2066/253042/253042.pdfTest
https://repository.ubn.ru.nl/handle/2066/253042Test -
7دورية أكاديمية
المؤلفون: Levy, M.A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B.R., Elting, M.W., Faivre, L., Fee, T., Fletcher, R.S., Cherik, F., Foroutan, A., Friez, M.J., Gervasini, C., Haghshenas, S., Hilton, B.A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R.J., Maitz, S., Milani, D., Morgan, A.T., Oegema, R., Ostergaard, E., Pallares, N.R., Piccione, M., Pizzi, S., Plomp, A.S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G.W.E., Santos-Simarro, F., Schijns, J., Squeo, G.M., St John, M., Thauvin-Robinet, C., Traficante, G., Sluijs, P.J. van der, Vergano, S.A., Vos, N., Walden, K.K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J.A., Mannens, M.M.A.M., Roscioli, T., Siu, V., Amor, D.J., Baynam, G., Bend, E.G., Boycott, K., Brunetti-Pierri, N., Campeau, P.M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J.A., Fleming, M.D., Genevieve, D., Kerrnohan, K.D., McNeill, A., Menke, L.A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S.A., Stevenson, R.E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M.L., Sadikovic, B.
المصدر: Human Genetics and Genomics Advances
مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics
وصف الملف: application/pdf
العلاقة: https://www.sciencedirect.com/science/article/pii/S2666247721000567?via%3DihubTest; lumc-id: 122261032; https://hdl.handle.net/1887/3666079Test
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/1887/3666079Test
https://www.sciencedirect.com/science/article/pii/S2666247721000567?via%3DihubTest -
8دورية أكاديمية
المؤلفون: Levy, M.A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M.P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B.R., Elting, M.W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R.S., Cherick, F., Foroutan, A., Friez, M.J., Gervasini, C., Haghshenas, S., Hilton, B.A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R.J., Maitz, S., Milani, D., Morgan, A.T., Oegema, R., Ostergaard, E., Pallares, N.R., Piccione, M., Plomp, A.S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G.W.E., Santos-Simarro, F., Schijns, J., Squeo, G.M., St John, M., Thauvin-Robinet, C., Traficante, G., Sluijs, P.J. van der, Vergano, S.A., Vos, N., Walden, K.K., Azmanov, D., Balci, T.B., Banka, S., Gecz, J., Henneman, P., Lee, J.A., Mannens, M.M.A.M., Roscioli, T., Siu, V., Amor, D.J., Baynam, G., Bend, E.G., Boycott, K., Brunetti-Pierri, N., Campeau, P.M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J.A., Fleming, M.D., Genevieve, D., Heron, D., Husson, T., Kernohan, K.D., McNeill, A., Menke, L.A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S.A., Stevenson, R.E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M.L., Sadikovic, B.
المصدر: Human Mutation: Variation, Informatics and Disease
مصطلحات موضوعية: clinical diagnostics, DNA methylation, episignatures, neurodevelopmental syndromes
وصف الملف: application/pdf
العلاقة: lumc-id: 175908643; https://hdl.handle.net/1887/3561441Test
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9دورية أكاديمية
المؤلفون: Laan, L. van der, Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M.A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M.L., Vissers, L.E.L.M., Koene, S., Ruivenkamp, C., Hoffer, M.J.V., Wieczorek, D., Bramswig, N.C., Herget, T., Gonzalez, V.L., Santos-Simarro, F., Torring, P.M., Denomme-Pichon, A.S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P.Y., Misra-Isrie, M., Esch, H. van, Mannens, M.M.A.M., Sadikovic, B., Haelst, M.M. van, Henneman, P.
المصدر: International Journal of Molecular Sciences
مصطلحات موضوعية: TRIP12, Clark-Baraitser syndrome, intellectual disability, DNA methylation, episignature
وصف الملف: application/pdf
العلاقة: lumc-id: 176346978; https://hdl.handle.net/1887/3561446Test
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10
المؤلفون: Levy, M.A., Beck, D.B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M.C., Keren, B., Moore, H.W., Oegema, R., Giltay, J.C., Simon, M., Jaarsveld, R.H. van, Bos, J., Haelst, M. van, Motazacker, M.M., Boon, E.M.J., Santen, G.W.E., Ruivenkamp, C.A.L., Alders, M., Luperchio, T.R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G.B., Bonasio, R., Doheny, K.F., Stevenson, R.E., Banka, S., Sadikovic, B., Fahrner, J.A.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::102aaccfc9e0e30c236824fffdae6a2dTest
https://hdl.handle.net/1887/3276857Test
