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

المؤلفون: Pullerits, R, Schierbeck, H, Uibo, K, Liivamagi, H, Tarraste, S, Talvik, T, Sundberg, E, Pruunsild, C

المصدر: Seminars in arthritis and rheumatism. 46(4):444-450

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135453845Test

المؤلفون: Zagaglia S., Selch C., Nisevic J. R., Mei D., Michalak Z., Hernandez-Hernandez L., Krithika S., Vezyroglou K., Varadkar S. M., Pepler A., Biskup S., Leao M., Gartner J., Merkenschlager A., Jaksch M., Moller R. S., Gardella E., Kristiansen B. S., Hansen L. K., Vari M. S., Helbig K. L., Desai S., Smith-Hicks C. L., Hino-Fukuyo N., Talvik T., Laugesaar R., Ilves P., Ounap K., Korber I., Hartlieb T., Kudernatsch M., Winkler P., Schimmel M., Hasse A., Knuf M., Heinemeyer J., Makowski C., Ghedia S., Subramanian G. M., Striano P., Thomas R. H., Micallef C., Thom M., Werring D. J., Kluger G. J., Cross J. H., Guerrini R., Balestrini S., Sisodiya S. M.

المساهمون: Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leao, M., Gartner, J., Merkenschlager, A., Jaksch, M., Moller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S., Helbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Ounap, K., Korber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S., Sisodiya, S. M.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000452519500005; volume:91; firstpage:e2078; lastpage:e2088; numberofpages:17; journal:NEUROLOGY; http://hdl.handle.net/11567/1022057Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85057142501

الإتاحة: https://doi.org/10.1212/WNL.0000000000006567Test
http://hdl.handle.net/11567/1022057Test

المؤلفون: Manivannan S. N., Roovers J., Smal N., Myers C. T., Turkdogan D., Roelens F., Kanca O., Chung H. L., Scholz T., Hermann K., Bierhals T., Caglayan H. S., Stamberger H., Craiu D., Davila C., Helbig I., Guerrini R., Lehesjoki A. E., Marini C., Muhle H., Møller R. S., Neubauer B., Pal D., Sterbova K., Striano P., Talvik T., Von Spiczak S., Weber Y., Hoffman-Zacharska D., Mefford H., De Jonghe P., Yamamoto S., Weckhuysen S., Bellen H. J.

المساهمون: Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H. L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., Craiu, D., Davila, C., Helbig, I., Guerrini, R., Lehesjoki, A. E., Marini, C., Muhle, H., Møller, R. S., Neubauer, B., Pal, D., Sterbova, K., Striano, P., Talvik, T., Von Spiczak, S., Weber, Y., Hoffman-Zacharska, D., Mefford, H., De Jonghe, P., Yamamoto, S., Weckhuysen, S., Bellen, H. J.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000788202600001; volume:145; firstpage:1684; lastpage:1697; numberofpages:14; journal:BRAIN; https://hdl.handle.net/11567/1142057Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126802575

الإتاحة: https://doi.org/10.1093/brain/awab409Test
https://hdl.handle.net/11567/1142057Test

المؤلفون: Zagaglia, S, Selch, C, Nisevic, JR, Mei, D, Michalak, Z, Hernandez-Hernandez, L, Krithika, S, Vezyroglou, K, Varadkar, SM, Pepler, A, Biskup, S, Leão, M, Gärtner, J, Merkenschlager, A, Jaksch, M, Møller, RS, Gardella, E, Kristiansen, BS, Hansen, LK, Vari, MS, Helbig, KL, Desai, S, Smith-Hicks, CL, Hino-Fukuyo, N, Talvik, T, Laugesaar, R, Ilves, P, Õunap, K, Körber, I, Hartlieb, T, Kudernatsch, M, Winkler, P, Schimmel, M, Hasse, A, Knuf, M, Heinemeyer, J, Makowski, C, Ghedia, S, Subramanian, GM, Striano, P, Thomas, RH, Micallef, C, Thom, M, Werring, DJ, Kluger, GJ, Cross, JH, Guerrini, R, Balestrini, S, Sisodiya, SM

المصدر: Neurology , 91 e1-e11. (2018)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10061911/1/WNL.0000000000006567.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10061911Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10061911/1/WNL.0000000000006567.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10061911Test/

المؤلفون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, HS, Craiu, DC, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, KM, Komarek, V, LeGuern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, SM, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, YG, Koeleman, BPC.

المساهمون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, Dc, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, Km, Komarek, V, Leguern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, Jm, Sisodiya, Sm, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, Yg, Koeleman, Bpc.

مصطلحات موضوعية: De novo, HNRNPU, X‐linked, epileptic encephalopathy, loss‐of‐function, prioritization, recessive, targeted panel sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27652284; info:eu-repo/semantics/altIdentifier/wos/WOS:000394450500010; volume:4; firstpage:568; lastpage:580; numberofpages:13; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11567/854821Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015718168

الإتاحة: https://doi.org/10.1002/mgg3.235Test
http://hdl.handle.net/11567/854821Test

المؤلفون: Allen, AS, Berkovic, SF, Bridgers, J, Cossette, P, Dlugos, D, Epstein, MP, Glauser, T, Goldstein, DB, Heinzen, EL, Jiang, Y, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Poduri, A, Ren, Z, Scheffer, IE, Sherr, E, Wang, Q, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Helbig, I, Hjalgrim, H, Hoffman-Zacharska, D, Jaehn, J, Klein, KM, Koeleman, B, Komarek, V, Krause, R, Leguern, E, Lehesjoki, A-E, Lemke, JR, Lerche, H, Linnankivi, T, Marini, C, May, P, Moller, RS, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, S, Stephani, U, Sterbova, K, Striano, P, Suls, A, Talvik, T, von Spiczak, S, Weber, Y, Weckhuysen, S, Zara, F, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, ME, Fountain, NB, French, J, Friedman, D, Haas, K, Haut, SR, Hayward, J, Joshi, S, Kanner, A, Kirsch, HE, Kossoff, EH, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, J, Park, K, Shellhaas, RA, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المصدر: European Journal of Human Genetics , 25 (7) pp. 894-899. (2017)

مصطلحات موضوعية: Epilepsy, Risk factors

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10082842Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10082842Test/

المؤلفون: Tang, S, Hughes, E, Lascelles, K, Simpson, MA, Pal, DK, Marini, C, Guerrini, R, Neubauer, B, Korff, CM, Craiu, D, Pal, D, Caglayan, H, Helbig, I, De Jonghe, P, Thomas, R, Møller, RS, Sisodiya, S, von Spiczak, S, Weckhuysen, S, Talvik, T

المصدر: American Journal of Medical Genetics, Part A , 173 (1) pp. 195-199. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1534923/1/Tang_et_al-2017-American_Journal_of_Medical_Genetics_Part_A.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1534923Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1534923/1/Tang_et_al-2017-American_Journal_of_Medical_Genetics_Part_A.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1534923Test/

المؤلفون: Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P, Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, Pia, Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. B., Hao, Q., Brusgaard, K., Hjalgrim, H., Moller, R. S.

المصدر: Dahl , H A , Larsen , L H G , Olofsson , K , Miranda , M , Nielsen , J E K , Lavard , L , Linnet , K , Uldall , P , Talvik , T , Talvik , I , Frangu , M , Born , P , Gellert , P , Nikanorova , M , Jepsen , B , Marjanovic , D , Kragh-Olsen , B , Mosbech , M B , Hao , Q , Brusgaard , K , Hjalgrim , H & Moller , R S 2015 , ' Targeted Next ....

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/fe7dd843-13fe-4a4d-a127-07c984619947Test

الإتاحة: https://doi.org/10.1111/epi.13241Test
https://portal.findresearcher.sdu.dk/da/publications/fe7dd843-13fe-4a4d-a127-07c984619947Test

المؤلفون: Moller, R. S., Nikanorova, M., Brilstra, E. H., Vaher, U., Talvik, I., Talvik, T., Kluger, G., Lemke, J. R., Myers, C., Larsen, L. H. G., Pendziwiat, M., Mang, Y., van Gassen, K. L., Dahl, H. A., Rubboli, G., Tommerup, N., Helbig, I., Mefford, H. C., Muhle, H.

المصدر: Moller , R S , Nikanorova , M , Brilstra , E H , Vaher , U , Talvik , I , Talvik , T , Kluger , G , Lemke , J R , Myers , C , Larsen , L H G , Pendziwiat , M , Mang , Y , van Gassen , K L , Dahl , H A , Rubboli , G , Tommerup , N , Helbig , I , Mefford , H C & Muhle , H 2015 , ' THE PHENOTYPIC SPECTRUM ASSOCIATED WITH GABRB3 MUTATIONS : FROM FEBRILE SEIZURES TO ....

الإتاحة: https://doi.org/10.1111/epi.13241/epdfTest
https://curis.ku.dk/portal/da/publications/the-phenotypic-spectrum-associated-with-gabrb3-mutationsTest(421279a4-3707-4992-84cf-70c3dbb08fbe).html