학술논문
'학술논문'
에서 검색결과 33건 | 목록
1~10
Academic Journal
Acsadi, Gyula; Baranello, Giovanni; Blaschek, Astrid; Brandsema, John; Brogna, Claudia; Bruno, Claudio; Connolly, Anne; de Groot, Imelda; De Waele, Liesbeth; Finanger, Erika; Finkel, Richard; Gidaro, Teresa; Guglieri, Michaela; Harper, Amy; Lopez Lobato, Mercedes; Madruga Garrido, Marcos; Magri, Francesca; Manousakis, Georgios; Masson, Riccardo; Monduy, Migvis; Muelas Gomez, Nuria; Munell, Francina; Nascimento, Andres; Nevo, Yoram; Pereon, Yann; Phan, Han; Sansone, Valeria; Scoto, Mariacristina; Vucinic, Dragana; Willis, Tracey; Mercuri, Eugenio ; Vilchez, Juan J; Boespflug-Tanguy, Odile; Zaidman, Craig M; Mah, Jean K; Goemans, Nathalie; Müller-Felber, Wolfgang; Niks, Erik H; Schara-Schmidt, Ulrike; Bertini, Enrico; Comi, Giacomo P; Mathews, Katherine D; Servais, Laurent; Vandenborne, Krista; Johannsen, Jessika; Messina, Sonia; Spinty, Stefan; McAdam, Laura; Selby, Kathryn; Byrne, Barry; Laverty, Chamindra G; Carroll, Kevin; Zardi, Giulia; Cazzaniga, Sara; Coceani, Nicoletta; Bettica, Paolo; McDonald, Craig M
In The Lancet Neurology April 2024 23(4):393-403
Academic Journal
Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P.; Rodero, Mathieu P.; El-Daher, Marie-Thérèse; Rice, Gillian I.; Dhir, Somdutta; Wheeler, Ann P.; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L.; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M. H.; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H.; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A.; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Jr., Hélio; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P.; Reijns, Martin A. M.; Gilbert, Nick; Crow, Yanick J.
Nature Genetics. 52(12):1364-1372
Academic Journal
Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C. Kingswood; Anna C. Jansen; Nobuo Shinohara; Shigeo Horie; Masaya Kubota; Jun Tohyama; Katsumi Imai; Mari Kaneda; Hideo Kaneko; Yasushi Uchida; Tomoko Kirino; Shoichi Endo; Yoshikazu Inoue; Katsuhisa Uruno; Ayse Serdaroglu; Zuhal Yapici; Banu Anlar; Sakir Altunbasak; Olga Lvova; Oleg Valeryevich Belyaev; Oleg Agranovich; Elena Vladislavovna Levitina; Yulia Vladimirovna Maksimova; Antonina Karas; Yuwu Jiang; Liping Zou; Kaifeng Xu; Yushi Zhang; Guoming Luan; Yuqin Zhang; Yi Wang; Meiling Jin; Dingwei Ye; Weiping Liao; Liemin Zhou; Jie Liu; Jianxiang Liao; Bo Yan; Yanchun Deng; Li Jiang; Zhisheng Liu; Shaoping Huang; Hua Li; Kijoong Kim; Pei-Lung Chen; Hsiu-Fen Lee; Jeng-Dau Tsai; Ching-Shiang Chi; Chao-Ching Huang; Kate Riney; Deborah Yates; Patrick Kwan; Surachai Likasitwattanakul; Charcrin Nabangchang; Lunliya Thampratankul Krisnachai Chomtho; Kamornwan Katanyuwong; Somjit Sriudomkajorn; Jo Wilmshurst; Reeval Segel; Tal Gilboa; Michal Tzadok; Aviva Fattal-Valevski; Panagiotis Papathanasopoulos; Antigone Syrigou Papavasiliou; Stylianos Giannakodimos; Stylianos Gatzonis; Evangelos Pavlou; Meropi Tzoufi; A. M. H. Vergeer; Marc Dhooghe; Hélène Verhelst; Filip Roelens; Marie Cecile Nassogne; Pierre Defresne; Liesbeth De Waele; Patricia Leroy; Nathalie Demonceau; Benjamin Legros; Patrick Van Bogaert; Berten Ceulemans; Lina Dom; Pierre Castelnau; Anne De Saint Martin; Audrey Riquet; Mathieu Milh; Claude Cances; Jean-Michel Pedespan; Dorothee Ville; Agathe Roubertie; Stéphane Auvin; Patrick Berquin; Christian Richelme; Catherine Allaire; Sophie Gueden; Sylvie Nguyen The Tich; Bertrand Godet; Maria Luz Ruiz Falco Rojas; Jaume Campistol Planas; Antonio Martinez Bermejo; Patricia Smeyers Dura; Susana Roldan Aparicio; Maria Jesus Martinez Gonzalez; Javier Lopez Pison; Manuel Oscar Blanco Barca; Eduardo Lopez Laso; Olga Alonso Luengo; Francisco Javier Aguirre Rodriguez; Ignacio Malaga Dieguez; Ana Camacho Salas; Itxaso Marti Carrera; Eduardo Martinez Salcedo; Maria Eugenia Yoldi Petri; Ramon Cancho Candela; Ines da Conceicao Carrilho; Jose Pedro Vieira; José Paulo da Silva Oliveira Monteiro; Miguel Jorge Santos de Oliveira Ferreira Leao; Catarina Sofia Marceano Ribeiro Luis; Carla Pires Mendonca; Milda Endziniene; Jurgis Strautmanis; Inga Talvik; Maria Paola Canevini; Antonio Gambardella; Dario Pruna; Salvatore Buono; Elena Fontana; Bernardo Dalla Bernardina; Carmen Burloiu; Iuliu Stefan Bacos Cosma; Mihaela Adela Vintan; Laura Popescu; Karel Zitterbart; Jaroslava Payerova; Ladislav Bratsky; Zuzana Zilinska; Ursula Gruber-Sedlmayr; Matthias Baumann; Edda Haberlandt; Kevin Rostasy; Ekaterina Pataraia; Frances Elmslie; Clare Ann Johnston; Pamela Crawford; Peter Uldall; Paul Uvebrant; Olof Rask; Marit Bjoernvold; Eylert Brodtkorb; Andreas Sloerdahl; Ragnar Solhoff; Martine Sofie Gilje Jaatun; Marek Mandera; Elzbieta Janina Radzikowska; Mariusz Wysocki; Michael Fischereder; Gerhard Kurlemann; Bernd Wilken; Adelheid Wiemer-Kruel; Klemens Budde; Klaus Marquard; Markus Knuf; Andreas Hahn; Hans Hartmann; Andreas Merkenschlager; Regina Trollmann
Frontiers in Neurology, Vol 11 (2020)
Electronic Resource
Johannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A.; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H.; Verbeek, Nienke E.; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arthur J.; Lal, Dennis; Lederer, Damien; Liao, Vivian W. Y.; Ahring, Philip K.; Moller, Rikke S.; Gardella, Elena
Electronic Resource
Genetica Klinische Genetica; Genetica Oper. Mangt Genoom Diagnostiek; Brain; Child Health; Johannesen, Katrine M; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A; Pérez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H; Verbeek, Nienke E; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M H; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K; Dinopoulos, Argirios; Campbell, Arthur J; Lal, Dennis; Lederer, Damien; Liao, Vivian W Y; Ahring, Philip K; Møller, Rikke S; Gardella, Elena
Electronic Resource
West, Hannah D.; Nellist, Mark; Brouwer, Rutger W.W.; Van Den Hout-Van Vroonhoven, Mirjam C.G.N.; De Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M.; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S.; Northrup, Hope; Sampson, Julian R.; Thomas, Laura E.; Van Ijcken, Wilfred F.J.
West , H D , Nellist , M , Brouwer , R W W , Van Den Hout-Van Vroonhoven , M C G N , De Almeida , L G D , Hendriks , F , Elfferich , P , Raja , M , Giles , P , Alfano , R M , Peron , A , Sznajer , Y , De Waele , L , Jansen , A , Koopmans , M , Kievit , A , Farach , L S , Northrup , H , Sampson , J R , Thomas , L E & Van Ijcken , W F J 2023 , ' Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal ' , Human Mutation , vol. 2023 , 4899372 .
Academic Journal
Crow, Yanick J.; Chase, Diana S.; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S.; Abdel-Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M.; Bahi-Buisson, Nadia; Bailey, Kathryn M.; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W.; Bernard, Geneviève; Bianchi, Marika; de Villemeur, Thierry Billette; Blair, Edward M.; Bloom, Miriam; Burlina, Alberto B.; Carpanelli, Maria Luisa; Carvalho, Daniel R.; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E.; Chitayat, David A.; Collins, Abigail E.; Corcoles, Concepcion Sierra; Cordeiro, Nuno J.V.; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C.; DArrigo, Stefano; De Goede, Christian G.E.L.; De Laet, Corinne; De Waele, Liesbeth M.H.; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C.; Fazzi, Elisa; Ferrie, Colin D.; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R.; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D.; Kirk, Edwin P.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; Piana, Roberta La; Lim, Ming J.; Lin, Jean-Pierre S.-M.; Linnankivi, Tarja; Mackay, Mark T.; Marom, Daphna R.; Lourenço, Charles Marques; McKee, Shane A.; Moroni, Isabella; Morton, Jenny E.V.; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J.; Olivieri, Ivana; Ostergaard, John R.; Pérez-Dueñas, Belén; Prendiville, Julie S.; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A.; Sinha, Gyanranjan P.; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I.; Straussberg, Rachel; Swoboda, Kathryn J.; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y.; te Water Naude, Johann; Teik, Keng Wee; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S.; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B.; Wassmer, Evangeline; Webb, Hannah J.; Whitehouse, William P.; Whitney, Robyn N.; Zaki, Maha S.; Zuberi, Sameer M.; Livingston, John H.; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I.
American Journal Of Medical Genetics - A. Feb 01, 2015 167(2):296-312
Academic Journal
Servais, Laurent; Seferian, Andreea Mihaela; Daron, Aurore; Pereon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth M. H.; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean-Yves; Baudin, Pierre-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda Pax; Gorni, Ksenija; Ly-Le Moal, Myriam; Hellbach, Nicole; Seabrook, Timothy; Czech, Christian; Hermosilla, Ricardo; Annoussamy, Melanie
Academic Journal
Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; Cordelli, Duccio M; De Waele, Liesbeth M; Fay, Alexander J; Ferreira, Patrick; Fletcher, Nicholas A; Fryer, Alan E; Goel, Himanshu; Hemingway, Cheryl A; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenço, Charles M; Malpas, Timothy J; Mehta, Sarju G; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H; Sinnathuray, Kanaga R; Soh, Calvin; Stewart, Helen S; Stone, John; Van Esch, Hilde; Van Mol, Christine E G; Vanderver, Adeline; Wakeling, Emma L; Whitney, Andrea; Pavitt, Graham D; Griffiths-Jones, Sam; Rice, Gillian I; Revy, Patrick; van der Knaap, Marjo S; Livingston, John H; O'Keefe, Raymond T; Crow, Yanick J
Nature Genetics. February 2017, Vol. 49 Issue 2, p317, 1 p.
Academic Journal
Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Shinohara, Nobuo; Horie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatzonis, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De Saint; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Sylvie Nguyen The Tich; Godet, Bertrand; Falco Rojas, Maria Luz Ruiz; Campistol Planas, Jaume; Martinez Bermejo, Antonio; Smeyers Dura, Patricia; Roldan Aparicio, Susana; Martinez Gonzalez, Maria Jesus; Lopez Pison, Javier; Blanco Barca, Manuel Oscar; Lopez Laso, Eduardo; Alonso Luengo, Olga; Aguirre Rodriguez, Francisco Javier; Malaga Dieguez, Ignacio; Camacho Salas, Ana; Marti Carrera, Itxaso; Martinez Salcedo, Eduardo; Yoldi Petri, Maria Eugenia; Cancho Candela, Ramon; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; da Silva Oliveira Monteiro, Jose Paulo; de Oliveira Ferreira Leao, Miguel Jorge Santos; Marceano Ribeiro Luis, Catarina Sofia; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberlandt, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Dahlin, Maria; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; TOSCA Consortium; TOSCA Investigators
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[검색어] De Waele, Liesbeth M. H.
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