학술논문
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'학술논문'
에서 검색결과 1,010건 | 목록
1~20
Academic Journal
Toupenet Marchesi, Liriopé; Stockholm, Daniel; Esteves, Typhaine; Leblanc, Marion; Auger, Nicolas; Branchu, Julien; El Hachimi, Khalid Hamid; Stevanin, Giovanni
Scientific Reports. 15(1)
Academic Journal
Messaoud-Khelifi, Mouna; Boulariah-Hadjou, Razika; Kediha, Mohamed Islam; Guillot-Noel, Lena; Guillaud-Bataille, Marine; Durand, Christelle Marie; Ali-Pacha, Lamia; Amer El Khedoud, Wahiba; Mochel, Fanny; de Sainte-Agathe, Jean-Madeleine; Stevanin, Giovanni
Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 26(1)
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Clinical Genetics. 107:668-672
Academic Journal
Mehrdad A Estiar; Eric Yu; Parizad Varghaei; Jay P. Ross; Setareh Ashtiani; Andrew N. Bayne; Giulia Coarelli; Dagmar Timmann; Thomas Klockgether; Danique Beijer; David Mengel; Marie Coutelier; Patrick A. Dion; Oksana Suchowersky; Claire Ewenczyk; Cyril Goizet; Giovanni Stevanin; Philip Van Damme; Ammar Al-Chalabi; Stephan Zuchner; Matthis Synofzik; Jan H. Veldink; Jean-Francois Trempe; Alexandra Durr; Guy A. Rouleau; Ziv Gan-Or
Academic Journal
Frontiers in Pediatrics, Vol 13 (2025)
Academic Journal
German Demidov; Steven Laurie; Annalaura Torella; Giulio Piluso; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Holm Graessner; Siddharth Banka; Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J. H. van Os; Bart P. C. van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G. Pauly; Anna Katharina Sommer; Tobias B. Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F. Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel; Katja Lohmann; Stephan Ossowski
Solve-RD consortium 2025, 'Correction : Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01841-w
Academic Journal
Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka; Solve-RD consortium; Siddharth; Lohmann, Katja; Ossowski Stephan; Solve-RD consortium: Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J H van Os; Bart P C van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G Pauly; Anna Katharina Sommer; Tobias B Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel
Eur J Hum Genet
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A,Stevanin , G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A,
Academic Journal
Cogan, Guillaume; Zaki, Maha S.; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cécile; Gleeson, Joseph G.; Howarth, Robyn; Durr, Alexandra; de Sainte Agathe, Jean-Madeleine; Mignot, Cyril
Human Genetics. 143(11):1353-1362
Academic Journal
Yahia, Ashraf; Hamed, Ahlam A. A.; Mohamed, Inaam N.; Elseed, Maha A.; Salih, Mustafa A.; El-sadig, Sarah M.; Siddig, Hassab Elrasoul; Nasreldien, Ali Elsir Musa; Abdullah, Mohamed Ahmed; Elzubair, Maha; Omer, Farouk Yassen; Bakhiet, Aisha Motwakil; Abubaker, Rayan; Abozar, Fatima; Adil, Rawaa; Emad, Sara; Musallam, Mhammed Alhassan; Eltazi, Isra Z. M.; Omer, Zulfa; Malik, Hiba; Mohamed, Mayada O. E.; Elhassan, Ali A.; Mohamed, Eman O. E.; Ahmed, Ahmed K. M. A.; Ahmed, Elhami A. A.; Eltaraifee, Esraa; Hussein, Bidour K.; Abd Allah, Amal S. I.; Salah, Lina; Nimir, Mohamed; Tag Elseed, Omnia M.; Elhassan, Tasneem E. A.; Elbashier, Abubakr; Alfadul, Esraa S. A.; Fadul, Moneeb; Ali, Khalil F.; Taha, Shaimaa Omer M. A.; Bushara, Elfatih E.; Amin, Mutaz; Koko, Mahmoud; Ibrahim, Muntaser E.; Ahmed, Ammar E.; Elsayed, Liena E. O.; Stevanin, Giovanni
European Journal of Human Genetics. 32(10):1214-1226
Academic Journal
Frontiers in Neuroscience, Vol 19 (2025)
Academic Journal
Manon Degoutin; Chloé Angelini; Claire Bar; Wahiba Amer El Khedoud; Christine Barnerias; Razika Boulariah‐Hadjou; Mehrdad A. Estiar; Claire Ewenczyk; Ziv Gan‐Or; Didier Lacombe; Claire Lefeuvre; Purvi Majethia; Mouna Messaoud‐Khelifi; Dhanya Lakshmi Narayanan; Guy A. Rouleau; Oksana Suchowersky; Anju Shukla; Marine Guillaud‐Bataille; Giovanni Stevanin; Cyril Goizet
Eur J Neurol
Academic Journal
Jonasz J. Weber; Leah Czisch; Priscila Pereira Sena; Florian Fath; Chrisovalantou Huridou; Natasa Schwarz; Rana D. Incebacak Eltemur; Anna Würth; Daniel Weishäupl; Miriam Döcker; Gunnar Blumenstock; Sandra Martins; Jorge Sequeiros; Guy A. Rouleau; Laura Bannach Jardim; Maria-Luiza Saraiva-Pereira; Marcondes C. França; Carlos R. Gordon; Roy Zaltzman; Mario R. Cornejo-Olivas; Bart P. C. van de Warrenburg; Alexandra Durr; Alexis Brice; Peter Bauer; Thomas Klockgether; Ludger Schöls; Olaf Riess; José Berciano; Sylvia Boesch; Sylvie Forlani; Paola Giunti; Heike Jacobi; Bela Melegh; Massimo Pandolfo; Tanja Schmitz-Hübsch; Jörg B. Schulz; Giovanni Stevanin; Sandra Szymanski; Sophie Tezenas du Montcel; Dagmar Timmann; Thorsten Schmidt
Acta Neuropathol
Acta neuropathologica 148(1), 14 (2024). doi:10.1007/s00401-024-02762-6
Acta Neuropathologica, 148, 1, pp. 14
Acta neuropathologica 148(1), 14 (2024). doi:10.1007/s00401-024-02762-6
Acta Neuropathologica, 148, 1, pp. 14
Academic Journal
Sandra Martins; Ashraf Yahia; Inês P. D. Costa; Hassab Elrasoul Siddig; Rayan Abubaker; Mahmoud Koko; Marc Corral‐Juan; Antoni Matilla‐Dueñas; Alexis Brice; Alexandra Dürr; Éric Leguern; Laura P.W. Ranum; António Amorim; Liena Elsayed; Giovanni Stevanin; Jorge Sequeiros
Hum Genet
Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Academic Journal
Ung, Dévina C.; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric
Molecular Psychiatry. 29(4):1205-1215
Academic Journal
Alkhalifa, Abdulrahman; Chen, Shihan; Hasiloglu, Zehra Isik; Filosto, Massimiliano; Cali, Elisa; Houlden, Henry; Sgobbi de Souza, Paulo; Alavi, Afagh; Goizet, Cyril; Stevanin, Giovanni; Taithe, Frederic; Nicita, Francesco; Vasco, Gessica; Tozza, Stefano; Cocozza, Sirio; Carboni, Nicola; Figus, Andrea; Wu, Jianjun; Basak, A. Nazli; Brais, Bernard; Rouleau, Guy; La Piana, Roberta
Journal of Neurology. 270(12):5784-5792
Report
Delplanque, Jérôme; Devos, David; Huin, Vincent; Genet, Alexandre; Sand, Olivier; Moreau, Caroline; Goizet, Cyril; Charles, Perrine; Anheim, Mathieu; Monin, Marie Lorraine; Buée, Luc; Destée, Alain; Grolez, Guillaume; Delmaire, Christine; Dujardin, Kathy; Dellacherie, Delphine; Brice, Alexis; Stevanin, Giovanni; Strubi-Vuillaume, Isabelle; Durr, Alexandra; Sablonnière, Bernard
Brain - A Journal of Neurology , Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663
Academic Journal
Manon Fortier; Margaux Cauhapé; Suzie Buono; Julien Becker; Alexia Menuet; Julien Branchu; Ivana Ricca; Serena Mero; Karim Dorgham; Khalid-Hamid El Hachimi; Kostantin Dobrenis; Benoit Colsch; Dominic Samaroo; Morgan Devaux; Alexandra Durr; Giovanni Stevanin; Filippo M. Santorelli; Sophie Colombo; Belinda Cowling; Frédéric Darios
Neurobiology of Disease, Vol 199, Iss , Pp 106564- (2024)
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