학술논문
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'학술논문'
에서 검색결과 707건 | 목록
1~20
Academic Journal
van den Bersselaar, Luuk R.; Schiemann, Anja H.; Yang, Chu Ya; Voermans, Nicol C.; Malagon, Ignacio; Scheffer, Gert Jan; Bjorksten, Andrew R.; Gillies, Robyn; Hellblom, Anna; Kamsteeg, Erik Jan; Snoeck, Marc M.J.; Stowell, Kathryn M.
British Journal of Anaesthesia.
Academic Journal
Swinkels, Hilde; Leferink, Maike; Pennings, Maartje; van der Sanden, Bart; Gilissen, Christian; Galbany, Jordi Corominas; Kamsteeg, Erik-Jan
European Journal of Human Genetics. 33(11):1547-1553
Academic Journal
Sivasankar Malaichamy; Romane Idoux; Kiran Polavarapu; Katarina Šikić; Elisa Holla; Rachel Thompson; Sally Spendiff; Anne Schänzer; Benno Küsters; Emily Freeman; Andreas Hentschel; Daniel O’Neil; Ricardo Carmona-Martinez; Vera Dobelmann; Calvin Tucht; Meyke Schouten; Tobias Ruck; Ulrike Schara-Schmidt; Erik-Jan Kamsteeg; Danijela Petković Ramadža; Antonia Jakovčević; Tamara Žigman; Mislav Čavka; Veronika Karcagi; Agnes Herczegfalvi; Steven Laurie; Leslie Matalonga; Sergi Beltran; Rita Horvath; Nicol Voermans; Andreas Roos; Ivo Barić; Hanns Lochmüller
Brain
Brain, 148, 8, pp. 2869-2882
Brain, 148, 8, pp. 2869-2882
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R,Kamsteeg , E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R,
The American Journal of Human Genetics
Academic Journal
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo‐Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik‐Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.; Farrar, Michelle A.; Vuillerot, Carole
Ann Neurol
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
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
Yaran Zhang; Marc Hulsman; Alex Salazar; Niccolò Tesi; Lydian Knoop; Sven van der Lee; Sanduni Wijesekera; Jana Krizova; Erik-Jan Kamsteeg; Henne Holstege
Genome Res
Genome Research, 35, 4, pp. 850-862
Genome Research, 35, 4, pp. 850-862
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
Ågren, Richard; Geerdink, Niels; Brunner, Han G.; Paucar, Martin; Kamsteeg, Erik-Jan; Sahlholm, Kristoffer
International Journal of Molecular Sciences. 24(13)
Academic Journal
Gaby Schobers; Maartje Pennings; Juliette de Vries; Michael Kwint; Jeroen van Reeuwijk; Jordi Corominas Galbany; Ronald van Beek; Eveline Kamping; Raoul Timmermans; Erik-Jan Kamsteeg; Lonneke Haer-Wigman; Frans P. M. Cremers; Susanne Roosing; Christian Gilissen; Hannie Kremer; Han G. Brunner; Helger G. Yntema; Lisenka E. L. M. Vissers
European Journal of Human Genetics, 33, 1, pp. 56-64
Academic Journal
Teije H. van Prooije; Maartje Pennings; Lucille Dorresteijn; Thatjana Gardeitchik; Vincent J.J. Odekerken; Mayke Oosterloo; Annie Pedersen; Corien C. Verschuuren‐Bemelmans; Alexander Vrancken; Erik‐Jan Kamsteeg; Bart P.C. van de Warrenburg
Movement Disorders, 39, 9, pp. 1636-1640
Academic Journal
Mridul Johari; Chiara Folland; Yoshihiko Saito; Machteld M. Oud; Jevin M. Parmar; Ana Töpf; Sergei Kurbatov; Maria Ampleeva; Ekaterina Y. Zakharova; Irina A. Chekmareva; Ksenia S. Shirokova; Dmitrii Atiakshin; Thatjana Gardeitchik; Erik-Jan Kamsteeg; Evita Medici; Laura Donker Kaat; Christine C. Bruels; Seth A. Stafki; Elicia A. Estrella; Hannah R. Littel; Louis M. Kunkel; Peter B. Kang; Ikeoluwa Osei-Owusu; Lynn Pais; Melaine O’Leary; Christina Austin-Tse; Anne O’Donnell-Luria; Brian Mangilog; Francesca Clementina Radio; Adele D’Amico; Andrea Ciolfi; Marco Tartaglia; Aurélien Perrin; Charles Van Goethem; Guilhem Sole; Marie-Laure Martin-Négrier; Mireille Cossée; Casie A. Genetti; Zaheer M. Valivullah; Vedrana Milic; Gordana Kovacevic; Ana Kosac; Cristiane A.M. Moreno; Clara Gontijo Camelo; Edmar Zanoteli; Michael C. Fahey; Alan H. Beggs; John Vissing; Volker Straub; Marco Savarese; Giorgio Tasca; Nicol Voermans; Nigel G. Laing; Bjarne Udd; Ichizo Nishino; Gianina Ravenscroft
medRxiv
Academic Journal
Niccolò E. Mencacci; Georgia Minakaki; Reza Maroofian; Raffaella De Pace; Adeline Paimboeuf; Patrick Shannon; David Chitayat; Francesca Magrinelli; Wesley J. Peng; Diptaman Chatterjee; Sara H. Eldessouky; Julia Baptista; Tamas Marton; Julie Vogt; Juan Dario Ortigoza-Escobar; Loreto Martorell; Marta Gómez-Chiari; Ingrid M Wentzensen; Erik-Jan Kamsteeg; Maha S. Zaki; Annarita Scardamaglia; Giovanni Zifarelli; Zuhair Nasser Al-Hassnan; Elka Miller; Shiri Shinar; Lova S. Matsa; Sri Hari Chandan Appikonda; Michael Schwake; Mariasavina Severino; Henry Houlden; Shunmoogum A. Patten; Juan S. Bonifacino; Kailash P. Bhatia; Dimitri Krainc
medRxiv
Academic Journal
The Cerebellum. 24(2)
Academic Journal
Birk Möller; Lena-Luise Becker; Afshin Saffari; Alexandra Afenjar; Emanuele G Coci; Rachel Williamson; Catherine Ward-Melver; Marc Gibaud; Lucie Sedláčková; Petra Laššuthová; Zuzana Libá; Markéta Vlčková; Nancy William; Eric W Klee; Ralitza H Gavrilova; Jonathan Lévy; Yline Capri; Mena Scavina; Robert Walter Körner; Zaheer Valivullah; Claudia Weiß; Greta Marit Möller; Zoë Frazier; Amy Roberts; Blanca Gener; Marcello Scala; Pasquale Striano; Federico Zara; Moritz Thiel; Margje Sinnema; Erik-Jan Kamsteeg; Sandra Donkervoort; Veronique Duboc; Khaoula Zaafrane-Khachnaoui; Nour Elkhateeb; Laila Selim; Henri Margot; Victor Marin; Claire Beneteau; Bertrand Isidor; Benjamin Cogne; Boris Keren; Benno Küsters; Alan H Beggs; Abigail Sveden; Maya Chopra; Casie A Genetti; Joost Nicolai; Jörg Dötsch; Anne Koy; Carsten G Bönnemann; Maja von der Hagen; Jürgen-Christoph von Kleist-Retzow; Nicol C Voermans; Heinz Jungbluth; Hormos Salimi Dafsari
Brain
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M,Kamsteeg , E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M,
Academic Journal
Prenatal Diagnosis, 44, 11, pp. 1304-1309
Academic Journal
Kruijt, Nick; van de Camp, Sanne A. J. H.; Kramer, Jasper J.; van den Bersselaar, Luuk R.; Schouten, Meyke; Gardeitchik, Thatjana; Jungbluth, Heinz; Bhai, Salman; van der Kooi, Anneke J.; Kamsteeg, Erik-Jan; Voermans, Nicol C.
Genes. September, 2025, Vol. 16 Issue 9
Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter
Academic Journal
Niccoló Tesi; Alex Salazar; Yaran Zhang; Sven van der Lee; Marc Hulsman; Lydian Knoop; Sanduni Wijesekera; Jana Krizova; Anne-Fleur Schneider; Maartje Pennings; Kristel Sleegers; Erik-Jan Kamsteeg; Marcel Reinders; Henne Holstege
Genome Res
Genome Research, 34, 11, pp. 1942-1953
Genome Research, 34, 11, pp. 1942-1953
Academic Journal
Ana Töpf; Dan Cox; Irina T. Zaharieva; Valeria Di Leo; Jaakko Sarparanta; Per Harald Jonson; Ian M. Sealy; Andrei Smolnikov; Richard J. White; Anna Vihola; Marco Savarese; Munise Merteroglu; Neha Wali; Kristen M. Laricchia; Cristina Venturini; Bas Vroling; Sarah L. Stenton; Beryl B. Cummings; Elizabeth Harris; Chiara Marini-Bettolo; Jordi Diaz-Manera; Matt Henderson; Rita Barresi; Jennifer Duff; Eleina M. England; Jane Patrick; Sundos Al-Husayni; Valerie Biancalana; Alan H. Beggs; Istvan Bodi; Shobhana Bommireddipalli; Carsten G. Bönnemann; Anita Cairns; Mei-Ting Chiew; Kristl G. Claeys; Sandra T. Cooper; Mark R. Davis; Sandra Donkervoort; Corrie E. Erasmus; Mahmoud R. Fassad; Casie A. Genetti; Carla Grosmann; Heinz Jungbluth; Erik-Jan Kamsteeg; Xavière Lornage; Wolfgang N. Löscher; Edoardo Malfatti; Adnan Manzur; Pilar Martí; Tiziana E. Mongini; Nuria Muelas; Atsuko Nishikawa; Anne O’Donnell-Luria; Narumi Ogonuki; Gina L. O’Grady; Emily O’Heir; Stéphanie Paquay; Rahul Phadke; Beth A. Pletcher; Norma B. Romero; Meyke Schouten; Snehal Shah; Izelle Smuts; Yves Sznajer; Giorgio Tasca; Robert W. Taylor; Allysa Tuite; Peter Van den Bergh; Grace VanNoy; Nicol C. Voermans; Julia V. Wanschitz; Elizabeth Wraige; Kimihiko Yoshimura; Emily C. Oates; Osamu Nakagawa; Ichizo Nishino; Jocelyn Laporte; Juan J. Vilchez; Daniel G. MacArthur; Anna Sarkozy; Heather J. Cordell; Bjarne Udd; Elisabeth M. Busch-Nentwich; Francesco Muntoni; Volker Straub
Nat Genet
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
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
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