학술논문
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'학술논문'
에서 검색결과 229건 | 목록
1~20
Academic Journal
Drost, Mark ; Dekker, Jordy ; Ferraro, Federico ; Kasteleijn, Esmee ; Verschuren, Marije ; Kroon, Evelien ; Douben, Hannie C.W. ; Vogt, Inte ; van Unen, Leontine ; Hoogeveen-Westerveld, Marianne ; Elfferich, Peter ; Schot, Rachel ; Calandrini, Camilla ; Korpershoek, Esther ; Sleutels, Frank ; Brüggenwirth, Hennie B.R. ; Hollink, Iris R. ; Meerstein-Kessel, Lisette ; Hoefsloot, Lies H. ; van Slegtenhorst, Marjon ; Wilke, Martina ; Weerts, Marjolein J.A. ; van Minkelen, Rick ; Wagner, Anja ; Bouman, Arjan ; van Paassen, Barbara W. ; Verheijen-Mancini, Grazia M. ; van de Laar, Ingrid M.B.H. ; Kievit, J.A. ; Verhagen, Judith M.A. ; Stuurman, Kyra E. ; Kaat, Laura Donker ; van Dooren, Marieke F. ; Wessels, Marja W. ; Oldenburg, Rogier A. ; Zeidler, Shimriet ; van Dijk, Tessa ; Barakat, T. Stefan ; Verhoeven, Virginie J.M. ; van Bever, Yolande ; van Ierland, Yvette ; Bannink, Natalja ; van Koningsbruggen, Silvana ; Lakeman, Phillis ; Leeuwen, Lisette ; Verbeek, Nienke E. ; Sinnema, Margje ; Heijligers, Malou ; van Asperen, Christi J. ; Saris, Jasper J. ; Nellist, Mark ; van Ham, Tjakko J.
In Human Genetics and Genomics Advances September 2025
Academic Journal
Klein, David ; van Dijke, Ivy ; van Langen, Irene M. ; Dondorp, Wybo ; Lakeman, Phillis ; Henneman, Lidewij ; Cornel, Martina C.
In Reproductive BioMedicine Online July 2024 49(1)
Academic Journal
Sallevelt, Suzanne C.E.H. ; Stegmann, Alexander P.A. ; de Koning, Bart ; Velter, Crool ; Steyls, Anja ; van Esch, Melanie ; Lakeman, Phillis ; Yntema, Helger ; Esteki, Masoud Zamani ; de Die-Smulders, Christine E.M. ; Gilissen, Christian ; van den Wijngaard, Arthur ; Brunner, Han G. ; Paulussen, Aimée D.C.
In Genetics in Medicine June 2021 23(6):1125-1136
Academic Journal
Kennedy, Joanna ; Goudie, David ; Blair, Edward ; Chandler, Kate ; Joss, Shelagh ; McKay, Victoria ; Green, Andrew ; Armstrong, Ruth ; Lees, Melissa ; Kamien, Benjamin ; Hopper, Bruce ; Tan, Tiong Yang ; Yap, Patrick ; Stark, Zornitza ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Macnamara, Ellen ; Murphy, Jennifer L. ; McCormick, Elizabeth ; Hakonarson, Hakon ; Falk, Marni J. ; Li, Dong ; Blackburn, Patrick ; Klee, Eric ; Babovic-Vuksanovic, Dusica ; Schelley, Susan ; Hudgins, Louanne ; Kant, Sarina ; Isidor, Bertrand ; Cogne, Benjamin ; Bradbury, Kimberley ; Williams, Mark ; Patel, Chirag ; Heussler, Helen ; Duff-Farrier, Celia ; Lakeman, Phillis ; Scurr, Ingrid ; Kini, Usha ; Elting, Mariet ; Reijnders, Margot ; Schuurs-Hoeijmakers, Janneke ; Wafik, Mohamed ; Blomhoff, Anne ; Ruivenkamp, Claudia A.L. ; Nibbeling, Esther ; Dingemans, Alexander J.M. ; Douine, Emilie D. ; Nelson, Stanley F. ; Hempel, Maja ; Bierhals, Tatjana ; Lessel, Davor ; Johannsen, Jessika ; Arboleda, Valerie A. ; Newbury-Ecob, Ruth
In Genetics in Medicine April 2019 21(4):850-860
Academic Journal
Nijmeijer, Stephanie C.M. ; Conijn, Thirsa ; Lakeman, Phillis ; Henneman, Lidewij ; Wijburg, Frits A. ; Haverman, Lotte
In Molecular Genetics and Metabolism January 2019 126(1):14-22
Academic Journal
Schanze, Ina ; Bunt, Jens ; Lim, Jonathan W.C. ; Schanze, Denny ; Dean, Ryan J. ; Alders, Marielle ; Blanchet, Patricia ; Attié-Bitach, Tania ; Berland, Siren ; Boogert, Steven ; Boppudi, Sangamitra ; Bridges, Caitlin J. ; Cho, Megan T. ; Dobyns, William B. ; Donnai, Dian ; Douglas, Jessica ; Earl, Dawn L. ; Edwards, Timothy J. ; Faivre, Laurence ; Fregeau, Brieana ; Genevieve, David ; Gérard, Marion ; Gatinois, Vincent ; Holder-Espinasse, Muriel ; Huth, Samuel F. ; Izumi, Kosuke ; Kerr, Bronwyn ; Lacaze, Elodie ; Lakeman, Phillis ; Mahida, Sonal ; Mirzaa, Ghayda M. ; Morgan, Sian M. ; Nowak, Catherine ; Peeters, Hilde ; Petit, Florence ; Pilz, Daniela T. ; Puechberty, Jacques ; Reinstein, Eyal ; Rivière, Jean-Baptiste ; Santani, Avni B. ; Schneider, Anouck ; Sherr, Elliott H. ; Smith-Hicks, Constance ; Wieland, Ilse ; Zackai, Elaine ; Zhao, Xiaonan ; Gronostajski, Richard M. ; Zenker, Martin ; Richards, Linda J.
In The American Journal of Human Genetics 1 November 2018 103(5):752-768
Academic Journal
Bouman, Arjan ; van Koningsbruggen, Silvana ; Karakullukcu, M. Bariş ; Schreuder, Willem Hans ; Lakeman, Phillis
In European Journal of Medical Genetics February 2018 61(2):94-97
Academic Journal
Mathijssen, Inge B. ; Henneman, Lidewij ; van Eeten-Nijman, Janneke M.C. ; Lakeman, Phillis ; Ottenheim, Cecile P.E. ; Redeker, Egbert J.W. ; Ottenhof, Winnie ; Meijers-Heijboer, Hanne ; van Maarle, Merel C.
In European Journal of Medical Genetics March 2015 58(3):123-128
Academic Journal
Fijen, Lauré M. ; Petersen, Remy S. ; Levi, Marcel ; Lakeman, Phillis ; Henneman, Lidewij ; Cohn, Danny M.
In The Journal of Allergy and Clinical Immunology: In Practice September 2022 10(9):2483-2486
Academic Journal
van Dijke, Ivy; van El, Carla G.; Lakeman, Phillis; Goddijn, Mariëtte; Rigter, Tessel; Cornel, Martina C.; Henneman, Lidewij
Academic Journal
Lakeman, Phillis ; Plass, Anne Marie C. ; Henneman, Lidewij ; Bezemer, Pieter D. ; Cornel, Martina C. ; ten Kate, Leo P.
In Genetics in Medicine November 2008 10(11):820-830
Academic Journal
In Health policy 2007 83(2):277-286
Academic Journal
Lakeman, Phillis ; Henneman, Lidewij ; Bezemer, Pieter Dirk ; Cornel, Martina Cornelia ; ten Kate, Leo Pieter
In Genetics in Medicine August 2006 8(8):502-509
Academic Journal
Heuvel, Lieke M van den; Woudstra, Anke J; van der Hout, Sanne; Jans, Suze; Wiersma, Tjerk; Dondorp, Wybo; Birnie, Erwin; Lakeman, Phillis; Henneman, Lidewij; Plantinga, Mirjam; Langen, Irene M van
Academic Journal
van den Berg, Gerrit; Claus, Laura R.; van der Zwaag, Bert; Lakeman, Phillis; Kaasenbrood, Lotte; Sayer, John A.; Lilien, Marc R.; van Eerde, Albertien M.
Nephron; 2024, Vol. 148 Issue 8, p569-577, 9p
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.
Academic Journal
Reijnders, Margot R.F. ; Miller, Kerry A. ; Alvi, Mohsan ; Goos, Jacqueline A.C. ; Lees, Melissa M. ; de Burca, Anna ; Henderson, Alex ; Kraus, Alison ; Mikat, Barbara ; de Vries, Bert B.A. ; Isidor, Bertrand ; Kerr, Bronwyn ; Marcelis, Carlo ; Schluth-Bolard, Caroline ; Deshpande, Charu ; Ruivenkamp, Claudia A.L. ; Wieczorek, Dagmar ; Baralle, Diana ; Blair, Edward M. ; Engels, Hartmut ; Lüdecke, Hermann-Josef ; Eason, Jacqueline ; Santen, Gijs W.E. ; Clayton-Smith, Jill ; Chandler, Kate ; Tatton-Brown, Katrina ; Payne, Katelyn ; Helbig, Katherine ; Radtke, Kelly ; Nugent, Kimberly M. ; Cremer, Kirsten ; Strom, Tim M. ; Bird, Lynne M. ; Sinnema, Margje ; Bitner-Glindzicz, Maria ; van Dooren, Marieke F. ; Alders, Marielle ; Koopmans, Marije ; Brick, Lauren ; Kozenko, Mariya ; Harline, Megan L. ; Klaassens, Merel ; Steinraths, Michelle ; Cooper, Nicola S. ; Edery, Patrick ; Yap, Patrick ; Terhal, Paulien A. ; van der Spek, Peter J. ; Lakeman, Phillis ; Taylor, Rachel L. ; Littlejohn, Rebecca O. ; Pfundt, Rolph ; Mercimek-Andrews, Saadet ; Stegmann, Alexander P.A. ; Kant, Sarina G. ; McLean, Scott ; Joss, Shelagh ; Swagemakers, Sigrid M.A. ; Douzgou, Sofia ; Wall, Steven A. ; Küry, Sébastien ; Calpena, Eduardo ; Koelling, Nils ; McGowan, Simon J. ; Twigg, Stephen R.F. ; Mathijssen, Irene M.J. ; Nellaker, Christoffer ; Brunner, Han G. ; Wilkie, Andrew O.M.
In The American Journal of Human Genetics 7 June 2018 102(6):1195-1203
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, 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
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, 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; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; 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; Tuemer, Zeynep; Rubboli, Guido
Epilepsia. 65(4):1029-1045
Academic Journal
Kennedy, Joanna ; Goudie, David ; Blair, Edward ; Chandler, Kate ; Joss, Shelagh ; McKay, Victoria ; Green, Andrew ; Armstrong, Ruth ; Lees, Melissa ; Kamien, Benjamin ; Hopper, Bruce ; Tan, Tiong Yang ; Yap, Patrick ; Stark, Zornitza ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Macnamara, Ellen ; Murphy, Jennifer L. ; McCormick, Elizabeth ; Hakonarson, Hakon ; Falk, Marni J. ; Li, Dong ; Blackburn, Patrick ; Klee, Eric ; Babovic-Vuksanovic, Dusica ; Schelley, Susan ; Hudgins, Louanne ; Kant, Sarina ; Isidor, Bertrand ; Cogne, Benjamin ; Bradbury, Kimberley ; Williams, Mark ; Patel, Chirag ; Heussler, Helen ; Duff-Farrier, Celia ; Lakeman, Phillis ; Scurr, Ingrid ; Kini, Usha ; Elting, Mariet ; Reijnders, Margot ; Schuurs-Hoeijmakers, Janneke ; Wafik, Mohamed ; Blomhoff, Anne ; Ruivenkamp, Claudia A.L. ; Nibbeling, Esther ; Dingemans, Alexander J.M. ; Douine, Emilie D. ; Nelson, Stanley F. ; Hempel, Maja ; Bierhals, Tatjana ; Lessel, Davor ; Johannsen, Jessika ; Arboleda, Valerie A. ; Newbury-Ecob, Ruth
In Genetics in Medicine November 2020 22(11):1920-1920
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