학술논문
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'학술논문'
에서 검색결과 43건 | 목록
1~20
Academic Journal
Maria Francesca Di Feo; Ali Oghabian; Ella Nippala; Mathias Gautel; Heinz Jungbluth; Francesca Forzano; Edoardo Malfatti; Claudia Castiglioni; Ilona Krey; David Gomez Andres; Angela F. Brady; Maria Iascone; Anna Cereda; Lidia Pezzani; Daniel Natera De Benito; Andres Nascimiento Osorio; Berta Estévez Arias; Sergei A. Kurbatov; Tania Attie‐Bitach; Sheela Nampoothiri; Erin Ryan; Michelle Morrow; Svetlana Gorokhova; Brigitte Chabrol; Juha Sinisalo; Heli Tolppanen; Johanna Tolva; Francina Munell; Jessica Camacho Soriano; Maria Angeles Sanchez Duran; Mridul Johari; Homa Tajsharghi; Peter Hackman; Bjarne Udd; Marco Savarese
Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2745-2755 (2024)
Academic Journal
Chad R. Camp; Anna Vlachos; Chiara Klöckner; Ilona Krey; Tue G. Banke; Nima Shariatzadeh; Sarah M. Ruggiero; Peter Galer; Kristen L. Park; Adam Caccavano; Sarah Kimmel; Xiaoqing Yuan; Hongjie Yuan; Ingo Helbig; Tim A. Benke; Johannes R. Lemke; Kenneth A. Pelkey; Chris J. McBain; Stephen F. Traynelis
Communications Biology, Vol 6, Iss 1, Pp 1-16 (2023)
Academic Journal
Morad Kamand; Reema Taleb; Methi Wathikthinnakon; Fadumo Abdullahi Mohamed; Said Pasalar Ghazanfari; Denis Konstantinov; Jonas Laugård Hald; Bjørn Holst; Charlotte Brasch-Andersen; Rikke S. Møller; Johannes R. Lemke; Ilona Krey; Kristine Freude; Abinaya Chandrasekaran
Stem Cell Research, Vol 76, Iss , Pp 103372- (2024)
Academic Journal
Simone Ahting; Helene Faust; Andreas Forstner; Maike Karnstedt; Maria Korte; Ilona Krey; Robert Meyer; Daniel Pieh; Anna Schaffeldt; Franziska Schnabel
Medizinische Genetik. 36:277-280
Academic Journal
Ludovica Montanucci; Tobias Brünger; Nisha Bhattarai; Christian M Boßelmann; Sukhan Kim; James P Allen; Jing Zhang; Chiara Klöckner; Ilona Krey; Piero Fariselli; Patrick May; Johannes R Lemke; Scott J Myers; Hongjie Yuan; Stephen F Traynelis; Dennis Lal
Hum Mol Genet
Academic Journal
Caroline Nava; Benjamin Cogne; Amandine Santini; Elsa Leitão; François Lecoquierre; Yuyang Chen; Sarah L. Stenton; Thomas Besnard; Solveig Heide; Sarah Baer; Abhilasha Jakhar; Sonja Neuser; Boris Keren; Anne Faudet; Sylvie Forlani; Marie Faoucher; Kevin Uguen; Konrad Platzer; Alexandra Afenjar; Jean-Luc Alessandri; Stephanie Andres; Chloé Angelini; Bernard Aral; Benoit Arveiler; Tania Attie-Bitach; Marion Aubert Mucca; Guillaume Banneau; Tahsin Stefan Barakat; Giulia Barcia; Stéphanie Baulac; Claire Beneteau; Fouzia Benkerdou; Virginie Bernard; Stéphane Bézieau; Dominique Bonneau; Marie-Noelle Bonnet-Dupeyron; Simon Boussion; Odile Boute; Elise Brischoux-Boucher; Samantha J. Bryen; Julien Buratti; Tiffany Busa; Almuth Caliebe; Yline Capri; Kévin Cassinari; Roseline Caumes; Camille Cenni; Pascal Chambon; Perrine Charles; John Christodoulou; Cindy Colson; Solène Conrad; Auriane Cospain; Juliette Coursimault; Thomas Courtin; Madeline Couse; Charles Coutton; Isabelle Creveaux; Alissa M. D’Gama; Benjamin Dauriat; Jean-Madeleine de Sainte Agathe; Giulia Del Gobbo; Andrée Delahaye-Duriez; Julian Delanne; Anne-Sophie Denommé-Pichon; Anne Dieux-Coeslier; Laura Do Souto Ferreira; Martine Doco-Fenzy; Stephan Drukewitz; Véronique Duboc; Christèle Dubourg; Yannis Duffourd; David Dyment; Salima El Chehadeh; Monique Elmaleh; Laurence Faivre; Samuel Fennelly; Hanna Fischer; Mélanie Fradin; Camille Galludec Vaillant; Benjamin Ganne; Jamal Ghoumid; Himanshu Goel; Zeynep Gokce-Samar; Alice Goldenberg; Romain Gonfreville Robert; Svetlana Gorokhova; Louise Goujon; Victoria Granier; Mathilde Gras; John M. Greally; Bianca Greiten; Paul Gueguen; Anne-Marie Guerrot; Saurav Guha; Anne Guimier; Tobias B. Haack; Hamza Hadj Abdallah; Yosra Halleb; Radu Harbuz; Madeleine Harris; Julia Hentschel; Bénédicte Héron; Marc-Phillip Hitz; A. Micheil Innes; Vincent Jadas; Louis Januel; Nolwenn Jean-Marçais; Vaidehi Jobanputra; Florence Jobic; Ludmila Jornea; Céline Jost; Sophie Julia; Frank J. Kaiser; Daniel Kaschta; Sabine Kaya; Petra Ketteler; Bochra Khadija; Fabian Kilpert; Cordula Knopp; Florian Kraft; Ilona Krey; Marilyn Lackmy; Fanny Laffargue; Laetitia Lambert; Ryan Lamont; Vincent Laugel; Steven Laurie; Julie L. Lauzon; Louis Lebreton; Marine Lebrun; Marine Legendre; Eric Leguern; Daphné Lehalle; Elodie Lejeune; Gaetan Lesca; Marion Lesieur-Sebellin; Jonathan Levy; Agnès Linglart; Stanislas Lyonnet; Kevin Lüthy; Alan S. Ma; Corinne Mach; Jean-Louis Mandel; Lamisse Mansour-Hendili; Julien Marcadier; Victor Marin; Henri Margot; Valentine Marquet; Angèle May; Johannes A. Mayr; Catherine Meridda; Vincent Michaud; Caroline Michot; Gwenael Nadeau; Sophie Naudion; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Sylvie Odent; Valerie Olin; Ikeoluwa A. Osei-Owusu; Matthew Osmond; Katrin Õunap; Laurent Pasquier; Sandrine Passemard; Melissa Pauly; Olivier Patat; Marine Pensec; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Marc Planes; Annapurna Poduri; Céline Poirsier; Antoine Pouzet; Bradley Prince; Clément Prouteau; Aurora Pujol; Caroline Racine; Mélanie Rama; Francis Ramond; Kara Ranguin; Margaux Raway; André Reis; Mathilde Renaud; Nicole Revencu; Anne-Claire Richard; Lucile Riera-Navarro; Rocio Rius; Diana Rodriguez; Agustí Rodriguez-Palmero; Sophie Rondeau; Annika Roser-Unruh; Christelle Rougeot Jung; Hana Safraou; Véronique Satre; Pascale Saugier-Veber; Clément Sauvestre; Elise Schaefer; Wanqing Shao; Ina Schanze; Jan-Ulrich Schlump; Agatha Schlüter Martin; Caroline Schluth-Bolard; Sarah Schuhmann; Christopher Schröder; Monisha Sebastin; Sabine Sigaudy; Malte Spielmann; Marta Spodenkiewicz; Laura St Clair; Julie Steffann; Radka Stoeva; Harald Surowy; Mark A. Tarnopolsky; Calina Todosi; Annick Toutain; Frédéric Tran Mau-Them; Astrid Unterlauft; Julien Van-Gils; Clémence Vanlerberghe; Georgia Vasileiou; Gabriella Vera; André Verdel; Alain Verloes; Yoann Vial; Cédric Vignal; Marie Vincent; Catherine Vincent-Delorme; Aline Vincent-Devulder; Antonio Vitobello; Sacha Weber; Marjolaine Willems; Khaoula Zaafrane-Khachnaoui; Pia Zacher; Lena Zeltner; Alban Ziegler; Wojciech P. Galej; Hélène Dollfus; Christel Thauvin; Kym M. Boycott; Pierre Marijon; Alban Lermine; Valérie Malan; Marlène Rio; Alma Kuechler; Bertrand Isidor; Séverine Drunat; Thomas Smol; Nicolas Chatron; Amélie Piton; Gael Nicolas; Matias Wagner; Rami Abou Jamra; Delphine Héron; Cyril Mignot; Pierre Blanc; Anne O’Donnell-Luria; Nicola Whiffin; Camille Charbonnier; Clément Charenton; Julien Thevenon; Christel Depienne
Nat Genet
Nature Genetics
Nature Genetics
Academic Journal
Allan Bayat; Maria Carla Borroto; Smrithi Salian; Maha S. Zaki; Hind Benkerroum; Hasnaa M. Elbendary; Thi Tuyet Mai Nguyen; Abdelrahim A. Sadek; Diana Carli; Alfredo Brusco; Giovanni Battista Ferrero; Marco Tartaglia; Eleanor Hay; Ilona Krey; Rami A. Jamra; Tobias Bartolomaeus; Alexej Knaus; Joseph G. Gleeson; Henry Houlden; Natalia Dominik; Adam Jackson; Sofia Douzgou Houge; Siddharth Banka; Javad Mohammadi-asl; Mohammadreza Hajjari; Reza Azizimalamiri; Pardis Nourbakhsh; Mostafa Neissi; Annarita Scardamaglia; Dianfan Li; Taroh Kinoshita; Reza Maroofian; Yoshiko Murakami; Philippe M. Campeau
Bayat, A, Borroto, M C, Salian, S, Zaki, M S, Benkerroum, H, Elbendary, H M, Nguyen, T T M, Sadek, A A, Carli, D, Brusco, A, Ferrero, G B, Tartaglia, M, Hay, E, Krey, I, A Jamra, R, Bartolomaeus, T, Knaus, A, Gleeson, J G, Houlden, H, Dominik, N, Jackson, A, Douzgou Houge, S, Banka, S, Mohammadi-Asl, J, Hajjari, M, Azizimalamiri, R, Nourbakhsh, P, Neissi, M, Scardamaglia, A, Li, D, Kinoshita, T, Maroofian, R, Murakami, Y & Campeau, P M 2025, 'PIGC-related encephalopathy : Lessons learned from 18 new probands', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01923-9
Academic Journal
Lena Manssen; Ilona Krey; Janina Gburek-Augustat; Cornelia von Hagen; Johannes R. Lemke; Andreas Merkenschlager; Heike Weigand; Christine Makowski
Neuropediatrics. 56:069-082
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Angel Aledo-Serrano; David Lewis-Smith; Helen Leonard; Allan Bayat; Mohamed Junaid; Eveline Hagebeuk; Christina D Fenger; Juliana Laze; Alessandra Rossi; Marina Trivisano; Beatriz Gonzalez-Giraldez; Julio Lama; Ilona Krey; Konrad Platzer; Elise Brischoux-Boucher; Catherine Sarret; Lysa Boissé Lomax; Caterina Zanus; Luciana Musante; Paola Costa; Patrick Moloney; Norman Delanty; Angelo Russo; Bitten Schönewolf-Greulich; Anne-Marie Bisgaard; Colette Berger; Elena Freri; Satoru Takahashi; Pia Zacher; Julien Jung; Scott Demarest; Eric Marsh; Alan Percy; Jeff Neul; Heather Olson; Lindsay Swanson; Stefano Meletti; Maria Cristina Cioclu; Quratulain Z. Ali; Ana Suller; Alvaro Beltran-Corbellini; Antonio Gil-Nagel; Xiaoming Zhang; Roberto Previtali; Anne F Højte; Nicola Specchio; Jenny Downs; Gaetan Lesca; Guido Rubboli; Danielle Andrade; Elena Gardella; Elia Pestana; Orrin Devinsky; Timothy Benke; Ingo Helbig; Rhys Thomas; Rikke S. Møller
Academic Journal
Berardo Rinaldi; Allan Bayat; Linda G Zachariassen; Jia-Hui Sun; Yu-Han Ge; Dan Zhao; Kristine Bonde; Laura H Madsen; Ilham Abdimunim Ali Awad; Duygu Bagiran; Amal Sbeih; Syeda Maidah Shah; Shaymaa El-Sayed; Signe M Lyngby; Miriam G Pedersen; Charlotte Stenum-Berg; Louise Claudia Walker; Ilona Krey; Andrée Delahaye-Duriez; Lisa T Emrick; Krystal Sully; Chaya N Murali; Lindsay C Burrage; Julie Ana Plaud Gonzalez; Mered Parnes; Jennifer Friedman; Bertrand Isidor; Jérémie Lefranc; Sylvia Redon; Delphine Heron; Cyril Mignot; Boris Keren; Mélanie Fradin; Christele Dubourg; Sandra Mercier; Thomas Besnard; Benjamin Cogne; Wallid Deb; Clotilde Rivier; Donatella Milani; Maria Francesca Bedeschi; Claudia Di Napoli; Federico Grilli; Paola Marchisio; Suzanna Koudijs; Danielle Veenma; Emanuela Argilli; Sally Ann Lynch; Ping Yee Billie Au; Fernando Eduardo Ayala Valenzuela; Carolyn Brown; Diane Masser-Frye; Marilyn Jones; Leslie Patron Romero; Wenhui Laura Li; Erin Thorpe; Laura Hecher; Jessika Johannsen; Jonas Denecke; Vanda McNiven; Anna Szuto; Emma Wakeling; Vincent Cruz; Valerie Sency; Heng Wang; Juliette Piard; Fanny Kortüm; Theresia Herget; Tatjana Bierhals; Angelo Condell; Bruria Ben-Zeev; Simranpreet Kaur; John Christodoulou; Amelie Piton; Christiane Zweier; Cornelia Kraus; Alessia Micalizzi; Marina Trivisano; Nicola Specchio; Gaetan Lesca; Rikke S Møller; Zeynep Tümer; Maria Musgaard; Benedicte Gerard; Johannes R Lemke; Yun Stone Shi; Anders S Kristensen
Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer, Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Academic Journal
Ilona Krey; Simone Ahting; Andreas Forstner; Maria Korte; Robert Meyer; Franziska Schnabel; Daniel Pieh; Maike Karnstedt
Medizinische Genetik. 35:327-330
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Academic Journal
Tim Vogel; Anne Sophie Albertowski; Evelyn Bienenstein; Stine Christ; Heiko Brennenstuhl; Marc D. Ferger; Nora Karara; Janna-Lina Kerth; Ilona Krey; Robert Meyer; Anna Michaelis; Jonas Obitz; Nicole Töpfner; Ali Tunç Tuncel; Julia Winter; Mehrak Yoosefi; Daniela S. Kohlfürst
Monatsschrift Kinderheilkunde. 171:804-812
Academic Journal
Christian Boßelmann; Ingo Borggräfe; Walid Fazeli; Karl-Martin Klein; Gerhard J. Kluger; Karen Müller-Schlüter; Bernd A. Neubauer; Sarah von Spiczak; Celina Steinbeis von Stülpnagel; Yvonne Weber; Johannes R. Lemke; Stefan Wolking; Ilona Krey
Clinical Epileptology. 36:224-237
Academic Journal
Heba Morsy; Mehdi Benkirane; Elisa Cali; Clarissa Rocca; Kristina Zhelcheska; Valentina Cipriani; Evangelia Galanaki; Reza Maroofian; Stephanie Efthymiou; David Murphy; Mary O’Driscoll; Mohnish Suri; Siddharth Banka; Jill Clayton-Smith; Thomas Wright; Melody Redman; Jennifer A. Bassetti; Mathilde Nizon; Benjamin Cogne; Rami Abu Jamra; Tobias Bartolomaeus; Marion Heruth; Ilona Krey; Janina Gburek-Augustat; Dagmar Wieczorek; Felix Gattermann; Meriel Mcentagart; Alice Goldenberg; Lucie Guyant-Marechal; Hector Garcia-Moreno; Paola Giunti; Brigitte Chabrol; Severine Bacrot; Roger Buissonnière; Virginie Magry; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Béla Melegh; András Szabó; Katalin Sümegi; Mireille Cossée; Monica Ziff; Russell Butterfield; David Hunt; Georgina Bird-Lieberman; Michael Hanna; Michel Koenig; Michael Stankewich; Jana Vandrovcova; Henry Houlden; J.C. Ambrose; P. Arumugam; E.L. Baple; M. Bleda; F. Boardman-Pretty; J.M. Boissiere; C.R. Boustred; H. Brittain; M.J. Caulfield; G.C. Chan; C.E.H. Craig; L.C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R.E. Foulger; T. Fowler; P. Furió-Tarí; J.M. Hackett; D. Halai; A. Hamblin; S. Henderson; J.E. Holman; T.J.P. Hubbard; K. Ibáñez; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; K. Lawson; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; J. Mason; E.M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; C.A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K.R. Smith; A. Sosinsky; W. Spooner; H.E. Stevens; A. Stuckey; R. Sultana; E.R.A. Thomas; S.R. Thompson; C. Tregidgo; A. Tucci; E. Walsh; S.A. Watters; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki
Genet Med
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann, F, Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D, Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann, F, Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D, Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013
Academic Journal
Stephanie Lorenz; Ilona Krey; Frederike Harms; Anja Freiseis; Florian Schmid; Roman Pokora; Kristina Stamos; Daniela Kohlfürst; Anne Sophie Albertowski
Monatsschrift Kinderheilkunde. 171:63-71
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