학술논문
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'학술논문'
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Academic Journal
Hanneke Doremiek van Oorschot; Jose Angelito Hardillo; Robert J.J. van Es; Guido B. van den Broek; Robert Paul Takes; Gyorgy Bela Halmos; Dominique Valerie Clarence de Jel; Richard Dirven; Martin Lacko; Lauretta Anna Alexandra Vaassen; Jan-Jaap Hendrickx; Marjolijn Abigal Eva-Maria Oomens; Hossein Ghaeminia; Jeroen C. Jansen; Annemarie Vesseur; Rolf Bun; Leonora Q. Schwandt; Christiaan A. Krabbe; Thomas J.W. Klein Nulent; Alexander J.M. van Bemmel; Reinoud J. Klijn; Robert Jan Baatenburg de Jong
British Journal of Oral and Maxillofacial Surgery. 63:664-671
Academic Journal
Harkness, J. Robert; McDermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D.S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J.M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovičová, Radka; Haberlová, Jana; Lauerová, Barbora; Trúsiková, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmüller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; AlMuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'Keefe, Raymond T.; Newman, William G.
Harkness, J R, McDermott, J H, Marsden, S, Jamieson, P, Metcalfe, K A, Khan, N, Macken, W L, Pitceathly, R D S, Record, C J, Maroofian, R, Kleopa, K, Christodoulou, K, Sabir, A, Islam, L, Santra, S, Durmusalioglu, E A, Atik, T, Isik, E, Cogulu, O, Urquhart, J E, Beaman, G M, Demain, L A, Jackson, A, Blakes, A J M, Byers, H J, Bennett, H, Lin, W H, Adamson, A, Patel, S, Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert, R, Haack, T, Losch, H, Ryba, L, Lassuthova, P, Valkovičová, R, Haberlová, J, Lauerová, B, Trúsiková, E, Polavarapu, K, Kilicarslan, O A, Lochmüller, H, Zamani, M, Chamanrou, N, Shariati, G, Sadeghian, S, Azizimalamiri, R, Maddirevula, S, AlMuhaizea, M, Alkuraya, F S, Horvath, R, Gungor, S, Manzur, A, Munot, P, Matthews, R, Banka, S, Reilly, M M, Bennett, D, O'Keefe, R T & Newman, W G 2025, 'Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants : a case series', The Lancet Neurology, vol. 24, no. 8, pp. 667-680. https://doi.org/10.1016/S1474-4422(25)00198-X
Academic Journal
Martin-Geary, Alexandra C.; Blakes, Alexander J.M.; Dawes, Ruebena; Findlay, Scott D.; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D’Souza, Elston N.; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G.E.L.; Anderson, Emily R.; Candler, Toby; Firth, Helen; Burge, Christopher B.; Sanders, Stephan J.; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola
Genome Medicine. 17(1)
Academic Journal
Inorganic Chemistry. 64:17255-17265
Academic Journal
den Hoed, Joery; Semmekrot, Fleur; Verseput, Jolijn; Dingemans, Alexander J.M.; Schijven, Dick; Francks, Clyde; Zarate, Yuri A.; Fisher, Simon E.
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Sharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
The American Journal of Human Genetics.
Academic Journal
Hanneke Doremiek van Oorschot; Jose Angelito Hardillo; Robert J.J. van Es; Guido B. van den Broek; Robert Paul Takes; Gyorgy Bela Halmos; Dominique Valerie Clarence de Jel; Richard Dirven; Martin Lacko; Lauretta Anna Alexandra Vaassen; Jan‐Jaap Hendrickx; Marjolijn Abigal Eva‐Maria Oomens; Hossein Ghaeminia; Jeroen C. Jansen; Annemarie Vesseur; Rolf Bun; Leonora Q. Schwandt; Christiaan A. Krabbe; Thomas J.W. Klein Nulent; Reinoud J. Klijn; Alexander J.M. van Bemmel; Robert Jan Baatenburg de Jong
Laryngoscope
Laryngoscope, 135, 7, pp. 2411-2419
Laryngoscope, 135, 7, pp. 2411-2419
Academic Journal
Rekerle, Lauren ; Danis, Daniel ; Rehburg, Filip ; Graefe, Adam S.L. ; Bily, Viktor ; Caballero-Oteyza, Andrés ; Cacheiro, Pilar ; Chimirri, Leonardo ; Chong, Jessica X. ; Connelly, Evan ; de Vries, Bert B.A. ; Dingemans, Alexander J.M. ; Duyzend, Michael H. ; Freiberger, Tomas ; Gehle, Petra ; Groza, Tudor ; Hansen, Peter ; Jacobsen, Julius O.B. ; Klocperk, Adam ; Ladewig, Markus S. ; Love, Michael I. ; Marcello, Allison J. ; Mordhorst, Alexander ; Munoz-Torres, Monica C. ; Reese, Justin ; Schuetz, Catharina ; Smedley, Damian ; Strauss, Timmy ; Vladyka, Ondrej ; Zocche, David ; Thun, Sylvia ; Mungall, Christopher J. ; Haendel, Melissa A. ; Robinson, Peter N.
In The American Journal of Human Genetics 8 January 2026 113(1):57-70
Academic Journal
Thomas B. Smith; Robert Kopajtich; Leigh A.M. Demain; Alessandro Rea; Huw B. Thomas; Manuel Schiff; Christian Beetz; Shelagh Joss; Gerard S. Conway; Anju Shukla; Mayuri Yeole; Periyasamy Radhakrishnan; Hatem Azzouz; Amel Ben Chehida; Monique Elmaleh-Bergès; Ruth I.C. Glasgow; Kyle Thompson; Monika Oláhová; Langping He; Emma M. Jenkinson; Amir Jahic; Inna A. Belyantseva; Melanie Barzik; Jill E. Urquhart; James O’Sullivan; Simon G. Williams; Sanjeev S. Bhaskar; Samantha Carrera; Alexander J.M. Blakes; Siddharth Banka; Wyatt W. Yue; Jamie M. Ellingford; Henry Houlden; Kevin J. Munro; Thomas B. Friedman; Robert W. Taylor; Holger Prokisch; Raymond T. O’Keefe; William G. Newman
Am J Hum Genet
DDD Study, Smith, T B, Kopajtich, R, Demain, L A M, Rea, A, Thomas, H B, Schiff, M, Beetz, C, Joss, S, Conway, G S, Shukla, A, Yeole, M, Radhakrishnan, P, Azzouz, H, Ben Chehida, A, Elmaleh-Bergès, M, Glasgow, R I C, Thompson, K, Oláhová, M, He, L, Jenkinson, E M, Jahic, A, Belyantseva, I A, Barzik, M, Urquhart, J E, O'Sullivan, J, Williams, S G, Bhaskar, S S, Carrera, S, Blakes, A J M, Banka, S, Yue, W W, Ellingford, J M, Houlden, H, Munro, K J, Friedman, T B, Prokisch, H, O'Keefe, R T & Newman, W G 2025, 'Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype', American Journal of Human Genetics, vol. 112, no. 1, pp. 59-74. https://doi.org/10.1016/j.ajhg.2024.11.007, https://doi.org/10.1016/j.ajhg.2024.11.007
DDD Study, Smith, T B, Kopajtich, R, Demain, L A M, Rea, A, Thomas, H B, Schiff, M, Beetz, C, Joss, S, Conway, G S, Shukla, A, Yeole, M, Radhakrishnan, P, Azzouz, H, Ben Chehida, A, Elmaleh-Bergès, M, Glasgow, R I C, Thompson, K, Oláhová, M, He, L, Jenkinson, E M, Jahic, A, Belyantseva, I A, Barzik, M, Urquhart, J E, O'Sullivan, J, Williams, S G, Bhaskar, S S, Carrera, S, Blakes, A J M, Banka, S, Yue, W W, Ellingford, J M, Houlden, H, Munro, K J, Friedman, T B, Prokisch, H, O'Keefe, R T & Newman, W G 2025, 'Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype', American Journal of Human Genetics, vol. 112, no. 1, pp. 59-74. https://doi.org/10.1016/j.ajhg.2024.11.007, https://doi.org/10.1016/j.ajhg.2024.11.007
Academic Journal
Chimirri, Leonardo ; Caufield, J. Harry ; Bridges, Yasemin ; Matentzoglu, Nicolas ; Gargano, Michael ; Cazalla, Mario ; Chen, Shihan ; Danis, Daniel ; Dingemans, Alexander J.M. ; Gehle, Klara ; Gehle, Petra ; Graefe, Adam S.L. ; Gu, Weihong ; Ladewig, Markus S. ; Lapunzina, Pablo ; Nevado, Julián ; Niyonkuru, Enock ; Ogishima, Soichi ; Seelow, Dominik ; Tenorio Castaño, Jair A. ; Turnovec, Marek ; de Vries, Bert B.A. ; Wang, Kai ; Wissink, Kyran ; Yüksel, Zafer ; Zucca, Gabriele ; Haendel, Melissa A. ; Mungall, Christopher J. ; Reese, Justin ; Robinson, Peter N.
In eBioMedicine November 2025 121
Academic Journal
IEEE Computer Graphics and Applications IEEE Comput. Grap. Appl. Computer Graphics and Applications, IEEE. 43(3):48-53 Jun, 2023
Academic Journal
The Journal of Theological Studies. April, 2005, Vol. 56 Issue 1, p168, 3 p.
Academic Journal
van Steenis, Ellis M. ; Huijbregts, Stephan C.J. ; Romani, Cristina ; Schoemaker, Joëll A. ; van Vliet, Ninke ; Kuypers, Allysa M. ; Rubio-Gozalbo, M. Estela ; Rennings, Alexander J.M. ; de Vries, Maaike ; Heiner-Fokkema, M. Rebecca ; van Spronsen, Francjan J.
In Molecular Genetics and Metabolism June 2025 145(2)
Academic Journal
van der Sluijs, Pleuntje J. ; Moutton, Sébastien ; Dingemans, Alexander J.M. ; Weis, Denisa ; Levy, Michael A. ; Boycott, Kym M. ; Arberas, Claudia ; Baldassarri, Margherita ; Beneteau, Claire ; Brusco, Alfredo ; Coutton, Charles ; Dabir, Tabib ; Dentici, Maria L. ; Devriendt, Koenraad ; Faivre, Laurence ; van Haelst, Mieke M. ; Jizi, Khadije ; Kempers, Marlies J. ; Kerkhof, Jennifer ; Kharbanda, Mira ; Lachlan, Katherine ; Marle, Nathalie ; McConkey, Haley ; Mencarelli, Maria A. ; Mowat, David. ; Niceta, Marcello ; Nicolas, Claire ; Novelli, Antonio ; Orlando, Valeria ; Pichon, Olivier ; Rankin, Julia ; Relator, Raissa. ; Ropers, Fabienne G. ; Rosenfeld, Jill A. ; Sachdev, Rani ; Sandaradura, Sarah A. ; Shukarova-Angelovska, Elena ; Steenbeek, Duco ; Tartaglia, Marco ; Tedder, Matthew A. ; Trajkova, Slavica ; Winer, Norbert ; Woods, Jeremy ; de Vries, Bert B.A. ; Sadikovic, Bekim ; Alders, Marielle ; Santen, Gijs W.E.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Lord, Jenny ; Oquendo, Carolina J. ; Wai, Htoo A. ; Holloway, John G. ; Martin-Geary, Alexandra ; Blakes, Alexander J.M. ; Arciero, Elena ; Domcke, Silvia ; Childs, Anne-Marie ; Low, Karen ; Rankin, Julia ; Baralle, Diana ; Martin, Hilary C. ; Whiffin, Nicola
In Genetics in Medicine December 2024 26(12)
Academic Journal
日本機械学会誌 / Journal of the Society of Mechanical Engineers. 1965, 68(561):1507
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[검색어] Alexander, J.M.
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