학술논문
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'학술논문'
에서 검색결과 730건 | 목록
1~20
Academic Journal
Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; de Vries, Petrus J; Ferreira, José 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; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J Chris; TOSCA investigators
Orphanet Journal of Rare Diseases. 16:1-15
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
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
Academic Journal
Nanetti, Lorenzo; Kearney, Mary; Boesch, Sylvia; Stovickova, Lucie; Ortigoza-Escobar, Juan Darío; Macaya, Alfons; Gomez-Andres, David; Roze, Emmanuel; Molnar, Maria Judit; Wolf, Nicole I.; Darling, Alejandra; Vasco, Gessica; Bertini, Enrico; Indelicato, Elisabetta; Neubauer, David; Haack, Tobias B.; Sagi, Judit C.; Danti, Federica R.; Sival, Deborah; Zanni, Ginevra; Kolk, Anneli; Boespflug-Tanguy, Odile; Schols, Ludger; van de Warrenburg, Bart; Vidailhet, Marie; Willemsen, Michèl A.; Buizer, Annemieke I.; Orzes, Enrico; Ripp, Sophie; Reinhard, Carola; Moroni, Isabella; Mariotti, Caterina; on Behalf of ERN-RND Working Group for Management of Transition
Neurological Sciences. 45(3):1007-1016
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
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r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
European Journal of Human Genetics
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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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European journal of human genetics
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
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European journal of human genetics
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In Genetics in Medicine April 2023 25(4)
Academic Journal
Salpietro, Vincenzo; Malintan, Nancy T; Llano-Rivas, Isabel; Spaeth, Christine G; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Bello, Oscar D; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Sultan, Tipu; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E; Macaya, Alfons; Kullmann, Dimitri M; Rothman, James E; Krishnakumar, Shyam S; Houlden, Henry; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Pironti, Erica; Goraya, Jatinder S; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa’, Mercedes; Munell, Francina; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G; Houlden, Henry.
Am J Hum Genet
Academic Journal
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JOURNAL OF MOLECULAR DIAGNOSTICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
The Journal of molecular diagnostics : JMD
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
The Journal of molecular diagnostics : JMD
Fundació Sant Joan de Déu
Academic Journal
Journal of Clinical Neurology, 16(3), pp.416-422 Jul, 2020
Academic Journal
Schlüter, Agatha; Vélez-Santamaría, Valentina; Verdura, Edgard; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes-Pedret, Christian; Albertí-Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás-Vila, Miguel; Bullich, Gemma; García-Pérez, M. Asunción; Sobrido-Gómez, María-Jesús; López-Laso, Eduardo; Fons, Carme; Del Toro, Mireia; Macaya, Alfons; Beltran, Sergi; Gutiérrez-Solana, Luis G.; Pérez-Jurado, Luis A.; Aguilera-Albesa, Sergio; de Munain, Adolfo López; Casasnovas, Carlos; Pujol, Aurora
Genome Medicine. 15(1)
Academic Journal
Salazar-Villacorta, Ainara; Cazurro-Gutierrez, Ana; Dougherty-de Miguel, Lucy; Ferrero-Turrion, Julia; Marce-Grau, Anna; Folch-Benito, Marta; Lucero-Garofano, Alvaro; Macaya, Alfons; Moreno-Galdo, Antonio; Vanegas, Maria I.; Correa-Vela, Marta; Gonzalez, Maria Victoria; Espanol-Martin, Gemma; Loredo, Martha; Delgado, Ignacio; Toro-Tamargo, Esther; Figueroa, Margarita; Vilas, Dolores; Tardaguila, Manel; Munoz, Jorge; Ispierto, Lourdes; Alvarez, Ramiro; Bescos, Agusti; Perez-Duenas, Belen
Academic Journal
Johansson Lennart; Laurie Steve; Spalding Dylan; Gibson Spencer; Ruvolo David; Thomas Coline; Piscia Davide; de Andrade Fernanda; Been Gerieke; Bijlsma Marieke; Brunner Han; Cimerman Sandi; Dizjikan Farid Yavari; Ellwanger Kornelia; Fernandez Marcos; Freeberg Mallory; van de Geijn Gert-Jan; Kanninga Roan; Maddi Vatsalya; Mehtarizadeh Mehdi; Neerincx Pieter; Ossowski Stephan; Rath Ana; Roelofs-Prins Dieuwke; Stok-Benjamins Marloes; van der Velde K Joeri; Veal Colin; van der Vries Gerben; Wadsley Marc; Warren Gregory; Zurek Birte; Keane Thomas; Graessner Holm; Beltran Serg; Swertz Morris A; Brookes Anthony; Riess Olaf; Haack Tobias; Demidov German; Sturm Marc; Schulze-Hentrich Julia M; Schüle Rebecca; Xu Jishu; Kessler Christoph; Kellner Melanie; Synofzik Matthis; Wilke Carlo; Traschütz Andreas; Schöls Ludger; Hengel Holger; Lerche Holger; Kegele Josua; Heutink Peter; Scheffer Hans; Hoogerbrugge Nicoline; Hoischen Alexander; 't Hoen Peter; Vissers Lisenka ELM; Gilissen Christian; Steyaert Wouter; Sablauskas Karolis; de Voer Richarda M; Kamsteeg Erik-Jan; van de Warrenburg Bart; van Os Nienke; te Paske Iris; Janssen Erik; de Boer Elke; Steehouwer Marloes; Yaldiz Burcu; Kleefstra Tjitske; Brookes Anthony J; Riaz Umar; Warren Greg; Shorter Thomas; Töpf Ana; Straub Volker; Bettolo Chiara Marini; Manera Jordi Diaz; Hambleton Sophie; Engelhardt Karin; Clayton-Smith Jill; Banka Siddharth; Alexander Elizabeth; Jackson Adam; Faivre Laurence; Thauvin Christel; Vitobello Antonio; Denommé-Pichon Anne-Sophie; Duffourd Yannis; Bruel Ange-Line; Peyron Christine; Pélissier Aurore; Beltran Sergi; Gut Ivo Glynne; Laurie Steven; Matalonga Leslie; Papakonstantinou Anastasios; Bullich Gemma; Corvo Alberto; Fernandez-Callejo Marcos; Hernández Carles; Picó Daniel; Paramonov Ida; Lochmüller Hanns; Gumus Gulcin; Bros-Facer Virginie; Hanauer Marc; Lagorce David; Hongnat Oscar; Chahdil Maroua; Lebreton Emeline; Stevanin Giovanni; Durr Alexandra; Davoine Claire-Sophie; Guillot-Noel Léna; Heinzmann Anna; Coarelli Giulia; Bonne Gisèle; Evangelista Teresinha; Allamand Valérie; Nelson Isabelle; Yaou Rabah Ben; Metay Corinne; Eymard Bruno; Cohen Enzo; Atalaia Antonio; Stojkovic Tanya; Macek Milan; Turnovec Marek; Thomasová Dana; Kremliková Radka Pourová; Franková Vera; Havlovicová Markéta; Lišková Petra; Doležalová Pavla; Parkinson Helen; Robinson Peter; Danis Daniel; Robert Glenn; Costa Alessia; Patch Christine; Hanna Mike; Houlden Henry; Reilly Mary; Vandrovcova Jana; Efthymiou Stephanie; Morsy Heba; Cali Elisa; Magrinelli Francesca; Sisodiya Sanjay M; Rohrer Jonathan; Muntoni Francesco; Zaharieva Irina; Sarkozy Anna; Timmerman Vincent; Baets Jonathan; de Vries Geert; De Winter Jonathan; Beijer Danique; de Jonghe Peter; Van de Vondel Liedewei; De Ridder Willem; Weckhuysen Sarah; Nigro Vincenzo; Mutarelli Margherita; Morleo Manuela; Pinelli Michele; Varavallo Alessandra; Banfi Sandro; Torella Annalaura; Musacchia Francesco; Piluso Giulio; Ferlini Alessandra; Selvatici Rita; Gualandi Francesca; Bigoni Stefania; Rossi Rachele; Neri Marcella; Aretz Stefan; Spier Isabel; Sommer Anna Katharina; Peters Sophia; Oliveira Carla; Garcia-Pelaez Jose; Barbosa-Matos Rita; José Celina São; Ferreira Marta; Gullo Irene; Fernandes Susana; Garrido Luzia; Ferreira Pedro; Carneiro Fátima; van der Velde Joeri K; Neerincx Pieter B; Abbott Kristin M; Frederikse Wilhemina S Kerstjens; Zonneveld-Huijssoon Eveline; van Gijn Marielle; Köhler Sebastian; Metcalfe Alison; Verloes Alain; Drunat Séverine; Heron Delphine; Mignot Cyril; Keren Boris; de Sainte Agathe Jean-Madeleine; Rooryck Caroline; Lacombe Didier; Trimouille Aurelien; De la Paz Manuel Posada; Sánchez Eva Bermejo; Martín Estrella López; Delgado Beatriz Martínez; de la Rosa F Javier Alonso García; Ciolfi Andrea; Dallapiccola Bruno; Pizzi Simone; Radio Francesca Clementina; Tartaglia Marco; Renieri Alessandra; Furini Simone; Fallerini Chiara; Benetti Elisa; Balicza Peter; Molnar Maria Judit; Maver Ales; Peterlin Borut; Münchau Alexander; Lohmann Katja; Herzog Rebecca; Pauly Martje; Macaya Alfons; Cazurro-Gutiérrez Ana; Pérez-Dueñas Belén; Munell Francina; Jarava Clara Franco; Masó Laura Batlle; Marcé-Grau Anna; Colobran Roger; Osorio Andrés Nascimento; de Benito Daniel Natera; Thompson Rachel; Polavarapu Kiran; Grimbacher Bodo; Beeson David; Cossins Judith; Hackman Peter; Johari Mridul; Savarese Marco; Udd Bjarne; Horvath Rita; Chinnery Patrick F; Ratnaike Thiloka; Gao Fei; Schon Katherine; Capella Gabriel; Valle Laura; Holinski-Feder Elke; Laner Andreas; Steinke-Lange Verena; Schröck Evelin; Rump Andreas; Başak Ayşe Nazlı; Hemelsoet Dimitri; Dermaut Bart; Schuermans Nika; Poppe Bruce; Verdin Hannah; Mei Davide; Vetro Annalisa; Balestrini Simona; Guerrini Renzo; Claeys Kristl; Santen; Gijs W E; Bijlsma; Emilia K; Hoffer; Mariette J V; Ruivenkamp; Claudia A L; Boztug Kaan; Haimel Matthias; Maystadt Isabelle; Cordts Isabell; Deschauer Marcus; Zaganas Ioannis; Kokosali Evgenia; Lambros Mathioudakis; Evangeliou Athanasios; Spilioti Martha; Kapaki Elisabeth; Bourbouli Mara; Striano Pasquale; Zara Federico; Riva Antonella; Iacomino Michele; Uva Paolo; Scala Marcello; Scudieri Paolo; Cilio Maria-Roberta; Carpancea Evelina; Depondt Chantal; Lederer Damien; Sznajer Yves; Duerinckx Sarah; Mary Sandrine; Depienne Christel; Roos Andreas; May Patrick
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
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