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

Relation: 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/11567/854821; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015718168

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

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

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

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdf
https://discovery.ucl.ac.uk/id/eprint/10073798/

المؤلفون: Tarta-Arsene, O, Barca, D, Iliescu, C, Budisteanu, M, Motoescu, CH, Magureanu, SA, Craiu, DC

المصدر: European Journal of Paediatric Neurology ; volume 17, page S65 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(13)70219-8
https://api.elsevier.com/content/article/PII:S1090379813702198?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379813702198?httpAccept=text/plain