Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Korenke, G C."'
Akademický článek
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Autor:
Fellmeth, R. H., Kousoulos, L., Korenke, G.-C., Christen, H.-J., Leypoldt, D., Wandinger, K.-P., Dargvainiene, J., Monazahian, M., Rostasy, K.
Publikováno v:
Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
Publikováno v:
Monatsschrift Kinderheilkunde; Mar2023, Vol. 171 Issue 3, p262-267, 6p
Autor:
Huppertz, Hans-Iko, Kommission für Infektionskrankheiten und Impffragen der Deutschen Akademie für Kinder- und Jugendmedizin e. V. (DAKJ), Korenke, G. C., Heininger, U., von Both, U., Grundhewer, H., Iseke, A., Knuf, M., Müller, A.
Publikováno v:
Monatsschrift Kinderheilkunde; Dec2021, Vol. 169 Issue 12, p1167-1170, 4p
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Huppertz, Hans-Iko, Kommission für Infektionskrankheiten und Impffragen der Deutschen Akademie für Kinder- und Jugendmedizin e. V. (DAKJ), Korenke, G. C., Heininger, U., von Both, U., Grundhewer, H., Iseke, A., Knuf, M., Müller, A.
Publikováno v:
Monatsschrift Kinderheilkunde; 2021, Vol. 169 Issue 1, p62-68, 7p
Autor:
Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S.
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Journal of Medical Genetics, Vol. 53, No 8 (2016) pp. 511-22
Journal of medical genetics
Journal of Medical Genetics, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Mignot, C, von Stülpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, G C, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybała, M, Yiş, U, Çağlayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, C T, Mefford, H C, Hörtnagel, K, Biskup, S, EuroEPINOMICS-RES MAE working group, Lemke, J R, Héron, D, Kluger, G, Depienne, C & Møller, R S 2016, ' Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy ', Journal of Medical Genetics, vol. 53, no. 8, pp. 511-522 . https://doi.org/10.1136/jmedgenet-2015-103451
Journal of Medical Genetics, BMJ Publishing Group, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Journal of Medical Genetics, Vol. 53, No 8 (2016) pp. 511-22
Journal of medical genetics
Journal of Medical Genetics, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Mignot, C, von Stülpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, G C, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybała, M, Yiş, U, Çağlayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, C T, Mefford, H C, Hörtnagel, K, Biskup, S, EuroEPINOMICS-RES MAE working group, Lemke, J R, Héron, D, Kluger, G, Depienne, C & Møller, R S 2016, ' Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy ', Journal of Medical Genetics, vol. 53, no. 8, pp. 511-522 . https://doi.org/10.1136/jmedgenet-2015-103451
Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949a01bb4b58b9b19d544b8f2f805793
https://hal.sorbonne-universite.fr/hal-01302596/document
https://hal.sorbonne-universite.fr/hal-01302596/document
Autor:
Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, Mcalister, L, Mccabe, A, Mckie, M, Mcmahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1):65. BioMed Central
Orphanet journal of rare diseases, 10(1):65. BioMed Central
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7081ec1efa0869586839008ff46d7
http://hdl.handle.net/11588/636258
http://hdl.handle.net/11588/636258