المؤلفون: Vögtle, F., Brändl, B., Larson, A., Pendziwiat, M., Friederich, M., White, S., Basinger, A., Kücükköse, C., Muhle, H., Jähn, J., Keminer, O., Helbig, K., Delto, C., Myketin, L., Mossmann, D., Burger, N., Miyake, N., Burnett, A., van Baalen, A., Lovell, M., Matsumoto, N., Walsh, M., Yu, H., Deepali N. Shinde, D., Stephani, U., Van Hove, J., Müller, F., Helbig, I.

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29576218; http://hdl.handle.net/21.11116/0000-0001-25D3-7Test; http://hdl.handle.net/21.11116/0000-0001-25D5-5Test

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2018.02.014
http://hdl.handle.net/21.11116/0000-0001-25D3-7Test
http://hdl.handle.net/21.11116/0000-0001-25D5-5Test

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: Mueller, A., Helbig, I., Jansen, C., Bast, T., Guerrini, R., Jaehn, J., Muhle, H., Auvin, S., Korenke, G. C., Philip, S., Keimer, R., Striano, P., Wolf, N. I., Puest, B., Thiels, Ch., Fogarasi, A., Waltz, S., Kurlemann, G., Kovacevic-Preradovic, T., Ceulemans, Berten, Schmitt, B., Philippi, H., Tarquinio, D., Buerki, S., von Stuelpnagel, C., Kluger, G.

المصدر: 1090-3798 ; European journal of paediatric neurology

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000368569100020

الإتاحة: https://doi.org/10.1016Test/J.EJPN.2015.09.001
https://hdl.handle.net/10067/1315500151162165141Test
https://repository.uantwerpen.be/docman/irua/be66b1/131550_2017_01_01.pdfTest

المؤلفون: Djemie, T, Weckhuysen, S, von Spiczak, S, Carvill, GL, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, HS, de Kovel, CG, Depienne, C, Gaily, E, Hamalainen, E, Giraldez, BG, Gormley, P, Guerrero-Lopez, R, Guerrini, R, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, BPC, Leguern, E, Lehesjoki, A-E, Lemke, JR, Leu, C, Marini, C, McMahon, JM, Mei, D, Moller, RS, Muhle, H, Myers, CT, Nava, C, Serratosa, JM, Sisodiya, SM, Stephani, U, Striano, P, van Kempen, MJA, Verbeek, NE, Usluer, S, Zara, F, Palotie, A, Mefford, HC, Scheffer, IE, De Jonghe, P, Helbig, I, Suls, A

العلاقة: pii: MGG3217; Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. -K., Brilstra, E., Caglayan, H. S., de Kovel, C. G., Depienne, C., Gaily, E., Hamalainen, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, C., Hernandez-Hernandez, L. ,. Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. MOLECULAR GENETICS & GENOMIC MEDICINE, 4 (4), pp.457-464. https://doi.org/10.1002/mgg3.217Test.; http://hdl.handle.net/11343/260070Test

الإتاحة: https://doi.org/10.1002/mgg3.217Test
http://hdl.handle.net/11343/260070Test

المؤلفون: de Kovel, CGF, Brilstra, EH, Van Kempen, MJA, Van‘t Slot, R, Nijman, IJ, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, AEE, Lemke, JR, Marini, C, Mei, D, Møller, RS, Pendziwiat, M, Stamberger, H, Suls, A, 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

المصدر: Molecular Genetics and Genomic Medicine , 4 (5) pp. 568-580. (2016)

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

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10073798Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10073798Test/

المؤلفون: Djémié, T, Weckhuysen, S, von Spiczak, S, Carvill, GL, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, HS, de Kovel, CG, Depienne, C, Gaily, E, Gennaro, E, Giraldez, BG, Gormley, P, Guerrero-López, R, Guerrini, R, Hämäläinen, E, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, BPC, Leguern, E, Lehesjoki, A-E, Lemke, JR, Leu, C, Marini, C, McMahon, JM, Mei, D, Møller, RS, Muhle, H, Myers, CT, Nava, C, Serratosa, JM, Sisodiya, SM, Stephani, U, Striano, P, van Kempen, MJA, Verbeek, NE, Usluer, S, Zara, F, Palotie, A, Mefford, HC, Scheffer, IE, De Jonghe, P, Helbig, I, Suls, A, EuroEPINOMICS‐RES Dravet working group

المصدر: Molecular Genetics & Genomic Medicine , 4 (4) pp. 457-464. (2016)

مصطلحات موضوعية: Dravet syndrome, Sanger sequencing, epilepsy, genetic screening, next‐generation sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1508807Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1508807Test/

المؤلفون: Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G., Jaehn, J., Anttonen, A., Brilstra, E., Caglayan, H., De Kovel, C., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B., Leguern, E., Lehesjoki, A., Lemke, J., Leu, C., Marini, C., McMahon, J., Mei, D., Moller, R., Muhle, H., Myers, C., Nava, C., Serratosa, J., Sisodiya, S., Stephani, U., Striano, P., van Kempen, M., Verbeek, N., Usluer, S., Zara, F., Palotie, A., Mefford, H., Scheffer, I., De Jonghe, P., Helbig, I., Suls, A.

المصدر: Molecular Genetics & Genomic Medicine

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4Test; http://hdl.handle.net/11858/00-001M-0000-002B-9C61-DTest

الإتاحة: https://doi.org/10.1002/mgg3.217Test
http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4Test
http://hdl.handle.net/11858/00-001M-0000-002B-9C61-DTest

المؤلفون: Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémie, T., Afrikanova, T., Gormley, P., Von Spiczak, S., Kluger, G., Iliescu, C. M., Talvik, T., Talvik, I., Meral, C., Caglayan, H. S., Giraldez, B. G., Serratosa, J., Lemke, J. R., Hoffman-Zacharska, D., Szczepanik, E., Barisic, N., Komarek, V., Hjalgrim, H., Møller, R. S., Linnankivi, T., Dimova, P., Striano, P., Zara, F., Marini, C., Guerrini, R., Depienne, C., Baulac, S., Kuhlenbäumer, G., Crawford, Alexander Dettmar, Lehesjoki, A.-E., De Witte, P. A. M., Palotie, A., Lerche, H., Esguerra, C. V., De Jonghe, P., Helbig, I.

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group)

المصدر: American Journal of Human Genetics, 93 (5), 967-975 (2013)

مصطلحات موضوعية: DNA binding protein, DNA fragment, Animals, Child, Cognition Disorders, Cohort Studies, DNA-Binding Proteins, Epilepsies, Myoclonic, Exome, Female, Gene Knockdown Techniques, Haploinsufficiency, Humans, Intellectual Disability, Larva, Male, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Febrile, Young Adult, Zebrafish, Danio rerio, Human health sciences, Sciences de la santé humaine

العلاقة: urn:issn:0002-9297; https://orbilu.uni.lu/handle/10993/27271Test; info:hdl:10993/27271; https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdfTest; scopus-id:2-s2.0-84890151248; info:pmid: PMID: PMID: 24207121; wos:000326996600017

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2013.09.017
https://orbilu.uni.lu/handle/10993/27271Test
https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdfTest

المؤلفون: Müller, A, Helbig, I, Jansen, C, Bast, T, Guerrini, R, Jähn, J, Muhle, H, Auvin, S, Korenke, G C, Philip, S, Keimer, R, Striano, P, Wolf, N I, Püst, B, Thiels, Ch, Fogarasi, A, Waltz, S, Kurlemann, G, Kovacevic-Preradovic, T, Ceulemans, B, Schmitt, B, Philippi, H, Tarquinio, D, Buerki, S, von Stülpnagel, C, Kluger, G

الإتاحة: https://doi.org/10.5167/uzh-135040Test
https://www.zora.uzh.ch/id/eprint/135040Test

المؤلفون: Mueller, A., Helbig, I., Jansen, C., Bast, T., Guerrini, R., Jaehn, J., Muhle, H., Auvin, S., Korenke, G. C., Philip, S., Keimer, R., Striano, P., Wolf, N. I., Puest, B., Thiels, Ch., Fogarasi, A., Waltz, S., Kurlemann, G., Kovacevic-Preradovic, T., Ceulemans, B., Schmitt, B., Philippi, H., Tarquinio, D., Buerki, S., von Stuelpnagel, C., Kluger, G.

المصدر: Mueller , A , Helbig , I , Jansen , C , Bast , T , Guerrini , R , Jaehn , J , Muhle , H , Auvin , S , Korenke , G C , Philip , S , Keimer , R , Striano , P , Wolf , N I , Puest , B , Thiels , C , Fogarasi , A , Waltz , S , Kurlemann , G , Kovacevic-Preradovic , T , Ceulemans , B , Schmitt , B , Philippi , H , Tarquinio , D , Buerki , S , von ....

العلاقة: https://research.vumc.nl/en/publications/c3a41535-2df0-46f4-b91a-4a1e68bd0c66Test

الإتاحة: https://doi.org/10.1016Test/j.ejpn.2015.09.001
https://research.vumc.nl/en/publications/c3a41535-2df0-46f4-b91a-4a1e68bd0c66Test