المؤلفون: Gannon, T, Perveen, R, Schlecht, H, Ramsden, S, Anderson, B, Kerr, B, Day, R, Banka, S, Suri, M, Berland, S, Gabbett, M, Ma, A, Lyonnet, S, Cormier-Daire, V, Yilmaz, R, Borck, G, Wieczorek, D, Anderlid, BM, Smithson, S, Vogt, J, Moore-Barton, H, Simsek-Kiper, PO, Maystadt, I, Destree, A, Bucher, J, Angle, B, Mohammed, S, Wakeling, E, Price, S, Singer, A, Sznajer, Y, Toutain, A, Haye, D, Newbury-Ecob, R, Fradin, M, McGaughran, J, Tuysuz, B, Tein, M, Bouman, K, Dabir, T, Van den Ende, J, Luk, HM, Pilz, DT, Eason, J, Davies, S, Reardon, W, Garavelli, L, Zuffardi, O, Devriendt, K, Armstrong, R, Johnson, D, Doco-Fenzy, M, Bijlsma, E, Unger, S, Veenstra-Knol, HE, Kohlhase, J, Lo, IFM, Smith, J, Clayton-Smith, J

المصدر: European journal of human genetics : EJHG. 23(9):1165-1170

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131785262Test

المؤلفون: Lionel, AC, Tammimies, K, Vaags, AK, Rosenfeld, JA, Ahn, JW, Merico, D, Noor, A, Runke, CK, Pillalamarri, VK, Carter, MT, Gazzellone, MJ, Thiruvahindrapuram, B, Fagerberg, C, Laulund, LW, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, AC, Leather, S, Trounce, J, Bedford, HM, Hatchwell, E, Eis, PS, Yuen, RKC, Walker, S, Uddin, M, Geraghty, MT, Nikkel, SM, Tomiak, EM, Fernandez, BA, Soreni, N, Crosbie, J, Arnold, PD, Schachar, RJ, Roberts, W, Paterson, AD, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, RB, Zwaigenbaum, L, Mandyam, D, Wei, J, MacDonald, JR, Howe, JL, Nalpathamkalam, T, Wang, ZZ, Tolson, D, Cobb, DS, Wilks, TM, Sorensen, MJ, Bader, PI, An, Y, Wu, BL, Musumeci, SA, Romano, C, Postorivo, D, Nardone, AM, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, CM, Shen, YP, Hodge, JC, Talkowski, ME, Stavropoulos, DJ, Marshall, CR, Scherer, SW

المصدر: Human molecular genetics. 23(10):2752-2768

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128745380Test

المؤلفون: Cova, G., Glaser, J., Schöpflin, R., Ali, S., Prada-Medina, C., Franke, M., Falcone, R., Federer, M., Ponzi, E., Ficarella, R., Novara, F., Wittler, L., Timmermann, B., Gentile, M., Zuffardi, O., Spielmann, M., Mundlos, S.

المصدر: Nature Communications

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36928426; http://hdl.handle.net/21.11116/0000-000A-29C7-8Test; http://hdl.handle.net/21.11116/0000-000D-1D35-8Test

الإتاحة: https://doi.org/10.1038/s41467-023-37057-zTest
http://hdl.handle.net/21.11116/0000-000A-29C7-8Test
http://hdl.handle.net/21.11116/0000-000D-1D35-8Test

المؤلفون: Wincent, J, Bruno, DL, van Bon, BW, Bremer, A, Stewart, H, Bongers, EM, Ockeloen, CW, Willemsen, MH, Keays, DD, Baird, G, Newbury, DF, Kleefstra, T, Marcelis, C, Kini, U, Stark, Z, Savarirayan, R, Sheffield, LJ, Zuffardi, O, Slater, HR, de Vries, BB, Knight, SJ, Anderlid, BM, Schoumans, J

المصدر: Molecular syndromology. 1(5):246-254

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:222140377Test

المؤلفون: Bonaglia, MC, Giorda, R, Mani, E, Aceti, G, Anderlid, BM, Baroncini, A, Pramparo, T, Zuffardi, O

المصدر: Journal of medical genetics. 43(10):822-828

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1931265Test

المؤلفون: Ventura, M, Mudge, JM, Palumbo, V, Burn, S, Blennow, E, Pierluigi, M, Giorda, R, Zuffardi, O, Archidiacono, N, Jackson, MS, Rocchi, M

المصدر: Genome research. 13(9):2059-2068

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1961372Test

المؤلفون: Schopflin R., Melo U. S., Moeinzadeh H., Heller D., Laupert V., Hertzberg J., Holtgrewe M., Alavi N., Klever M. -K., Jungnitsch J., Comak E., Turkmen S., Horn D., Duffourd Y., Faivre L., Callier P., Sanlaville D., Zuffardi O., Tenconi R., Kurtas N. E., Giglio S., Prager B., Latos-Bielenska A., Vogel I., Bugge M., Tommerup N., Spielmann M., Vitobello A., Kalscheuer V. M., Vingron M., Mundlos S.

المساهمون: Schopflin, R., Melo, U. S., Moeinzadeh, H., Heller, D., Laupert, V., Hertzberg, J., Holtgrewe, M., Alavi, N., Klever, M. -K., Jungnitsch, J., Comak, E., Turkmen, S., Horn, D., Duffourd, Y., Faivre, L., Callier, P., Sanlaville, D., Zuffardi, O., Tenconi, R., Kurtas, N. E., Giglio, S., Prager, B., Latos-Bielenska, A., Vogel, I., Bugge, M., Tommerup, N., Spielmann, M., Vitobello, A., Kalscheuer, V. M., Vingron, M., Mundlos, S.

مصطلحات موضوعية: Chromothripsis and chromoanasynthesi, Structural variant, Complex genomic rearrangement, Hi-C interaction map, Topologically associating domains (TADs)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36309531; info:eu-repo/semantics/altIdentifier/wos/WOS:000885163300028; volume:13; issue:1; numberofpages:15; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11584/354759Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140915097

الإتاحة: https://doi.org/10.1038/s41467-022-34053-7Test
https://hdl.handle.net/11584/354759Test

المؤلفون: Schöpflin, R., Melo, U., Moeinzadeh, M., Heller, D., Laupert, V., Hertzberg, J., Holtgrewe, M., Alavi, N., Klever, M., Jungnitsch, J., Comak, E., Türkmen, S., Horn, D., Duffourd, Y., Faivre, L., Callier, P., Sanlaville, D., Zuffardi, O., Tenconi, R., Kurtas, N., Giglio, S., Prager, B., Latos-Bielenska, A., Vogel, I., Bugge, M., Tommerup, N., Spielmann, M., Vitobello, A., Kalscheuer, V., Vingron, M., Mundlos, S.

المصدر: Nature Communications

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-000B-60AD-6Test; http://hdl.handle.net/21.11116/0000-000B-60AF-4Test

الإتاحة: https://doi.org/10.1038/s41467-022-34053-7Test
http://hdl.handle.net/21.11116/0000-000B-60AD-6Test
http://hdl.handle.net/21.11116/0000-000B-60AF-4Test

المؤلفون: Provenzano A., Farina A., Seidenari A., Azzaroli F., Serra C., Gatta A. D., Zuffardi O., Giglio S. R.

المساهمون: Provenzano A., Farina A., Seidenari A., Azzaroli F., Serra C., Gatta A.D., Zuffardi O., Giglio S.R.

مصطلحات موضوعية: Exome sequencing, Fetal cell free DNA, Liver disorder, Non-invasive WES

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34679599; info:eu-repo/semantics/altIdentifier/wos/WOS:000715526700001; volume:11; issue:10; firstpage:1; lastpage:7; numberofpages:7; journal:DIAGNOSTICS; http://hdl.handle.net/11585/867112Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117780882; https://doi.org/10.3390/diagnostics11101904Test

الإتاحة: https://doi.org/10.3390/diagnostics11101904Test
http://hdl.handle.net/11585/867112Test

المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.

المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الإتاحة: https://doi.org/10.1111/epi.14683Test
http://hdl.handle.net/11568/996341Test