학술논문
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'학술논문'
에서 검색결과 102건 | 목록
1~20
Academic Journal
Ksenia Lavrichenko; Emilie Sofie Engdal; Rasmus L. Marvig; Anders Jemt; Jone Marius Vignes; Henrikki Almusa; Kristine Bilgrav Saether; Eiríkur Briem; Eva Caceres; Edda María Elvarsdóttir; Magnús Halldór Gíslason; Maria K. Haanpää; Viktor Henmyr; Ronja Hotakainen; Eevi Kaasinen; Roan Kanninga; Sofia Khan; Mary Gertrude Lie-Nielsen; Majbritt Busk Madsen; Niklas Mähler; Khurram Maqbool; Ramprasad Neethiraj; Karl Nyrén; Minna Paavola; Peter Pruisscher; Ying Sheng; Ashish Kumar Singh; Aashish Srivastava; Thomas K. Stautland; Daniel T. Andreasen; Esmee ten Berk de Boer; Søren Vang; Valtteri Wirta; Frederik Otzen Bagger
Genome Medicine, Vol 17, Iss 1, Pp 1-14 (2025)
Academic Journal
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; de Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido; De Wachter, Matthias; Koudijs, Suzanna V; Van Esch, Hilde
Epilepsia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R,Haanpää , M K , Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K , Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K , Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R,Haanpää , M K , Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K , Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K , Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2024, ' Developmental epileptic encephalopathy in DLG4-related synaptopathy ', Epilepsia, vol. 65, no. 4, pp. 1029-1045 . https://doi.org/10.1111/epi.17876
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R,
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R,
Academic Journal
Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M.; Haanpää, Maria K.; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas
European Journal of Human Genetics. 32(7):858-863
Academic Journal
Rahikkala, Elisa; Väisänen, Taneli; Ojala, Liisa; Pohjola, Pia; Toivonen, Minna; Parkkola, Riitta; Haanpää, Maria K.
Mol Syndromol
Academic Journal
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria
Hum Mol Genet
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap,K , Haanpää , M K , Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K , Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, 'Natural history of KBG syndrome in a large European cohort', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142. https://doi.org/10.1093/hmg/ddac167
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap,
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Genome Medicine. 16(1)
Academic Journal
Haanpaa, Maria K.; Haldeman-englert, Chad R.; Hietala, Marja; Tanverdi, Melisa S.; Koty, Patrick P.; Brightman, Diana; Dosunmu, Eniolami; Tibrewal, Shailja; Kaur, Savleen; Kaur, Anupriya; Verma, Raj Kumar; De Alba Campomanes, Alejandra G.; Utz, Virginia; Slavotinek, Anne M.; Curry, Cynthia
Academic Journal
In European Journal of Medical Genetics August 2023 66(8)
Academic Journal
Romano, Ferruccio; Haanpää, Maria K; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello
American Journal of Medical Genetics Part A. 194
Academic Journal
In European Journal of Medical Genetics November 2022 65(11)
Academic Journal
Micale, Lucia ; Morlino, Silvia ; Carbone, Annalucia ; Carissimo, Annamaria ; Nardella, Grazia ; Fusco, Carmela ; Palumbo, Orazio ; Schirizzi, Annalisa ; Russo, Federica ; Mazzoccoli, Gianluigi ; Breckpot, Jeroen ; De Luca, Chiara ; Ferraris, Alessandro ; Giunta, Cecilia ; Grammatico, Paola ; Haanpää, Maria K. ; Mancano, Giorgia ; Forzano, Giulia ; Cacchiarelli, Davide ; Van Esch, Hilde ; Callewaert, Bert ; Rohrbach, Marianne ; Castori, Marco
In Genetics in Medicine February 2022 24(2):439-453
Academic Journal
Patócs, Attila Balázs ; Chappuis, Pierre ; Colas, Chrystelle ; Genuardi, Maurizio ; Haanpää, Maria ; Vetti, Hildegunn Hoberg ; Hoogerbrugge, Nicoline ; Irmejs, Arvids ; Kahre, Tiina ; Klink, Barbara ; Krajc, Mateja ; Milagre, Tamara Hussong ; de Putter, Robin ; Steinke-Lange, Verena ; Wadt, Karin ; Wimmer, Katharina ; Marmolejo, David Humberto ; Wong, Mark Yu Zheng ; Bajalica-Lagercrantz, Svetlana ; Tischkowitz, Marc ; Balmaña, Judith
In European Journal of Medical Genetics December 2021 64(12)
Academic Journal
Antje Kampmeier; Elsa Leitão; Ilaria Parenti; Jasmin Beygo; Christel Depienne; Nuria C Bramswig; Tzung-Chien Hsieh; Alexandra Afenjar; Stefanie Beck-Wödl; Ute Grasshoff; Tobias B Haack; Emilia K Bijlsma; Claudia Ruivenkamp; Eva Lausberg; Miriam Elbracht; Maria K Haanpää; Hannele Koillinen; Uwe Heinrich; Imma Rost; Rami Abou Jamra; Denny Popp; Margarete Koch-Hogrebe; Kevin Rostasy; Vanesa López-González; María José Sanchez-Soler; Catarina Macedo; Ariane Schmetz; Carmen Steinborn; Sabine Weidensee; Hellen Lesmann; Felix Marbach; Pilar Caro; Christian P. Schaaf; Peter Krawitz; Dagmar Wieczorek; Frank J Kaiser; Alma Kuechler
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Academic Journal
Taylan, Fulya ; Janhonen, Joel ; Ekholm, Katja ; Bajalica-Lagercrantz, Svetlana ; Becker, Stefan ; Benneche, Andreas ; Cairns, Patrick ; Grauman, Åsa ; Haanpää, Maria ; Nielsen, Ole Haubjerg ; Vetti, Hildegunn Høberg ; Sørensen, Lauge Holm ; Ishaq, Bushra ; Jahnukainen, Kirsi ; Kero, Andreina ; Knapstad, Ida Katrine ; Korhonen, Laura S. ; Kuchinskaya, Ekaterina ; Lagerstedt-Robinson, Kristina ; Lie, Hanne C. ; Ljungman, Gustaf ; Maya-González, Carolina ; Nolvi, Saara ; Nordfors, Kristiina ; Olsen, Thale Kristin ; Orrsjö, Sara ; Poluha, Anna ; Schmiegelow, Kjeld ; Stoltze, Ulrik Kristoffer ; Strang-Karlsson, Sonja ; Zhang, Alexander Sun ; Tesi, Bianca ; Tettamanti, Giorgio ; Tham, Emma ; Wachtmeister, Alexandra ; Wadt, Karin A.W. ; Wahlberg, Ayo ; Wangensteen, Teresia ; Wille, Joakim ; Munthe-Kaas, Monica Cheng ; Nordgren, Ann
In Rare 2025 3
Academic Journal
Riikka E. Mäkitie; Petra Henning; Yaming Jiu; Anders Kämpe; Konstantin Kogan; Alice Costantini; Ville‐Valtteri Välimäki; Carolina Medina‐Gomez; Minna Pekkinen; Isidro B. Salusky; Camilla Schalin‐Jäntti; Maria K. Haanpää; Fernando Rivadeneira; John H. Duncan Bassett; Graham R. Williams; Ulf H. Lerner; Renata C. Pereira; Pekka Lappalainen; Outi Mäkitie
JBMR Plus, Vol 5, Iss 7, Pp n/a-n/a (2021)
Academic Journal
Päivi Pietilä‐Effati; Jukka T. Saarinen; Eliisa Löyttyniemi; Reijo Autio; Maria Saarenhovi; Maria K. Haanpää; Ilkka Kantola
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Review
Paakkola Teija; Keskinen Sini; Pohjola Pia; Toivonen Minna; Ridanpää Maaret; Hietala Marja; Haanpää Maria K.
Duodecim. 138(23):2111-2117
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저널명(출판물, Title)
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자료유형(Source Type)
주제어
언어