-
1دورية أكاديمية
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
-
2دورية أكاديمية
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
-
3دورية أكاديمية
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
-
4دورية أكاديمية
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
-
5دورية أكاديمية
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/
-
6دورية أكاديمية
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
-
7دورية أكاديمية
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/
-
8دورية أكاديمية
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/
-
9مؤتمر
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 -
10مؤتمر
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