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'학술논문'
에서 검색결과 12건 | 목록
1~20
Academic Journal
Aleksandra Vujović; Anne-Laure Sellier-Leclerc; Maria Cristina Mancuso; Olivia Boyer; Atif Awan; Antonio Gargiulo; Sebastian Loos; Marc Fila; Augustina Jankauskiene; Gema Ariceta; Nele Kanzelmeyer; Enrico Vidal; Maria Van Dyck; Tanja Kersnik Levart; Naděžda Šimánková; Stephane Decramer; Jonas Hofstetter; Marina Vivarelli; Savino Sciascia; Nicole C.A.J. van de Kar; Franz Schaefer; David Kavanagh; René Andersen; Mia Faerch; Soren Rittig; Miquel Blasco; Pedro Arango Sancho; Alvaro Madrid; Loreto Gesualdo; Camillo Carrara; Piero Ruggenenti; Kai-Uwe Eckardt; Jan Halbritter; Dominik Müller; Adrian Schreiber; Evelyn Seelow; Yahsou Delmas; Jerome Harambat; Brigitte Llanas; Nathalie Godefroid; Eric Goffin; Johann Morelle; Adrian Catalin Lungu; George Reusz; Péter Sallay; Attila Szabo; Kalman Tory; Jan Ulrich Becker; Kathrin Burgmaier; Volker Burst; Sandra Habbig; Max Liebau; Roman-Ulrich Mueller; Lutz Weber; Mette Damholt; Anne-Lise Kamper; Karl Emil Nelveg-Kristensen; Hanne Nørgaard; Ida Maria Schmidt; Soeren Soerensen; Wladimir Szpirt; Agnieszka Jaskólska; Monika Miklaszewska; Anna Moczulska; Elżbieta Szczęsny-Choruz; Katarzyna Zachwieja; Peter Conlon; Michael Wiesener; Anja Büscher; Rainer Büscher; Lars Pape; Francesca Becherucci; Paola Romagnani; Ann Raes; Thomas Renson; Evelien Snauwaert; Johan Vande Walle; Jill Vanmassenhove; Mark Eijgelsheim; Casper Franssen; Coen Stegeman; Florian Grahammer; Thomas Henne; Tobias Huber; Christian Krebs; Anne Mühlig; Jun Oh; Ulf Panzer; Raphael Schild; Jessica Kaufeld; Stefanie Haeberle; Tanja Wlodkowski; Juuso Tainio; Elisa Ylinen; Obbo Bredewold; Wieneke Michels; Dorien Peters; Antonius Rabelink; Arghya Ray; Joris Rotmans; Siebe Spijker; Y.K. Onno Teng; Kathleen Claes; Noel Knops; Anamarija Meglič; Gregor Novljan; Agnieszka Gach; Monika Pawlak-Bratkowska; Małgorzata Stańczyk; Marcin Tkaczyk; Pierre Cochat; Teresa Cavero; Eduardo Guiterrez; Joaquin Martinez; Enrique Morales; Hernando Trujillo; Gianluigi Ardissino; Valentina Capone; Sara Testa; Denis Morin; Martin Konrad; Ilaria Luongo; Gabriele Malgieri; Luigi Annicchiarico Petruzzelli; Wilbert van der Meijden; Jack Wetzels; Mattia Parolin; Thérésa Kwon; Aude Servais; Laurent Mesnard; Alena Parikova; Silvie Rajnochova-Bloudickova; Janka Slatinska; Ondrej Viklicky; Martin Bezdicka; Nadezda Simankova; Dana Thomasova; Jakub Zieg; Francesco Emma; Rocco Baccaro; Giuseppe Grandaliano; Alessandro Naticchia; Francesco Pesce; Margherita Baldassarri; Andrea Guarnieri; Anna Maria Pinto; Alessandra Renieri; Stanislas Faguer; David Ribes; Thomas Simon; Stephanie Tellier; Daniel Gale; Christoph Licht; Michal Malina; Candice Roufosse; Neil Sheerin; Susana Carvajal Arjona; Renée de Wildt; Uwe Korst; Christiane Mockenhaupt; Francisco Monfort; Mireya Vicenta Rios Carratala
EClinicalMedicine, Vol 82, Iss , Pp 103159- (2025)
Academic Journal
Paulina Köhler; Andrea Ribeiro; Mohsen Honarpisheh; Ekaterina von Rauchhaupt; Georg Lorenz; Chenyu Li; Lucas Martin; Stefanie Steiger; Maja Lindenmeyer; Christoph Schmaderer; Hans-Joachim Anders; Dana Thomasova; Maciej Lech
Cells, Vol 14, Iss 5, p 381 (2025)
Academic Journal
Dana Thomasová; Michaela Zelinová; Malgorzata Libik; Jan Geryk; Pavel Votýpka; Silvie Rajnochová Bloudíčková; Karel Krejčí; Jana Reiterová; Eva Jančová; Jana Machová; Martina Kollárová; Ivan Rychík; Martin Havrda; Miroslava Horáčková; Martina Putzová; Roman Šafránek; Marek Kollár; Milan Macek
Frontiers in Medicine, Vol 10 (2023)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Pavlina Plevova; Jana Indrakova; Judy Savige; Petra Kuhnova; Petra Tvrda; Dita Cerna; Sarka Hilscherova; Monika Kudrejova; Daniela Polendova; Radka Jaklova; Martina Langova; Helena Jahnova; Jana Lastuvkova; Jiri Dusek; Josef Gut; Marketa Vlckova; Pavla Solarova; Gabriela Kreckova; Eva Kantorova; Jana Soukalova; Rastislav Slavkovsky; Jana Zapletalova; Tomas Tichy; Dana Thomasova
Frontiers in Medicine, Vol 10 (2023)
Academic Journal
Maia Tato; Santhosh V. Kumar; Yajuan Liu; Shrikant R. Mulay; Solange Moll; Bastian Popper; Jonathan N. Eberhard; Dana Thomasova; Arne Christian Rufer; Sabine Gruner; Wolfgang Haap; Guido Hartmann; Hans-Joachim Anders
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Academic Journal
Shrikant R. Mulay; Jyaysi Desai; Santhosh V. Kumar; Jonathan N. Eberhard; Dana Thomasova; Simone Romoli; Melissa Grigorescu; Onkar P. Kulkarni; Bastian Popper; Volker Vielhauer; Gabriele Zuchtriegel; Christoph Reichel; Jan Hinrich Bräsen; Paola Romagnani; Rostyslav Bilyy; Luis E. Munoz; Martin Herrmann; Helen Liapis; Stefan Krautwald; Andreas Linkermann; Hans-Joachim Anders
Nature Communications, Vol 7, Iss 1, Pp 1-15 (2016)
Academic Journal
Neoplasia: An International Journal for Oncology Research, Vol 14, Iss 12, Pp 1097-1101 (2012)
Academic Journal
Sara Nagy; Alistair T Pagnamenta; Elisa Cali; Hilde M H Braakman; Juerd Wijntjes; Benno Kusters; Marc Gotkine; Orly Elpeleg; Vardiella Meiner; Jerica Lenberg; Kristen Wigby; Jennifer Friedman; Luke D Perry; Alexander M Rossor; Anna Uhrova Meszarosova; Dana Thomasova; Saiju Jacob; Mary O'Driscoll; Lenika De Simone; Dorothy K Grange; Richard Sommerville; Zahra Firoozfar; Shahryar Alavi; Mahta Mazaheri; Jevin M Parmar; Phillipa J Lamont; Veronica Pini; Anna Sarkozy; Francesco Muntoni; Gianina Ravenscroft; Eppie Jones; Declan O'Rourke; Melissa Nel; Jeannine M Heckmann; Michelle Kvalsund; Musambo M Kapapa; Somwe Wa Somwe; David R Bearden; Arman Çakar; Anne-Marie Childs; Rita Horvath; Mary M Reilly; Henry Houlden; Reza Maroofian
Brain Commun
Brain Communications, 6, 6
Brain Communications, 6, 6
Academic Journal
Birte Zurek; Kornelia Ellwanger; Lisenka E. L. M. Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M. de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A. C. ’t Hoen; Antonio Vitobello; Julia M. Schulze-Hentrich; Olaf Riess; Han G. Brunner; Anthony J. Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Holm Graessner; Tobias B. Haack; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Ivo Glynne Gut; Davide Piscia; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Virginie Bros-Facer; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
Eur J Hum Genet
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
Academic Journal
Journal of the American Society of Nephrology. 31:504-505
Academic Journal
Shrikant R Mulay; Jyaysi Desai; Santhosh VR Kumar; Jonathan Eberhard; Dana Thomasova; Simone Romoli; Andreas Linkermann; Hans-Joachim Anders
Nephrology Dialysis Transplantation. 30:iii4-iii4
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