학술논문
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'학술논문'
에서 검색결과 152건 | 목록
1~20
Academic Journal
Biological Psychiatry. 27(1):31-38
Academic Journal
Karsten Boldt; Jeroen van Reeuwijk; Qianhao Lu; Konstantinos Koutroumpas; Thanh-Minh T. Nguyen; Yves Texier; Sylvia E. C. van Beersum; Nicola Horn; Jason R. Willer; Dorus A. Mans; Gerard Dougherty; Ideke J. C. Lamers; Karlien L. M. Coene; Heleen H. Arts; Matthew J. Betts; Tina Beyer; Emine Bolat; Christian Johannes Gloeckner; Khatera Haidari; Lisette Hetterschijt; Daniela Iaconis; Dagan Jenkins; Franziska Klose; Barbara Knapp; Brooke Latour; Stef J. F. Letteboer; Carlo L. Marcelis; Dragana Mitic; Manuela Morleo; Machteld M. Oud; Moniek Riemersma; Susan Rix; Paulien A. Terhal; Grischa Toedt; Teunis J. P. van Dam; Erik de Vrieze; Yasmin Wissinger; Ka Man Wu; Gordana Apic; Philip L. Beales; Oliver E. Blacque; Toby J. Gibson; Martijn A. Huynen; Nicholas Katsanis; Hannie Kremer; Heymut Omran; Erwin van Wijk; Uwe Wolfrum; François Kepes; Erica E. Davis; Brunella Franco; Rachel H. Giles; Marius Ueffing; Robert B. Russell; Ronald Roepman; UK10K Rare Diseases Group
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Academic Journal
Wheway, Gabrielle; Schmidts, Miriam; Mans, Dorus A.; Szymanska, Katarzyna; Nguyen, Thanh Minh T; Racher, Hilary; Phelps, Ian G.; Toedt, Grischa; Kennedy, Julie; Wunderlich, Kirsten A.; Sorusch, Nasrin; Abdelhamed, Zakia A.; Natarajan, Subaashini; Herridge, Warren; Van Reeuwijk, Jeroen; Horn, Nicola; Boldt, Karsten; Parry, David A.; Letteboer, Stef J F; Roosing, Susanne; Adams, Matthew; Bell, Sandra M.; Bond, Jacquelyn; Higgins, Julie; Morrison, Ewan E.; Tomlinson, Darren C.; Slaats, Gisela G.; Van Dam, Teunis J P; Huang, Lijia; Kessler, Kristin; Giessl, Andreas; Logan, Clare V.; Boyle, Evan A.; Shendure, Jay; Anazi, Shamsa; Aldahmesh, Mohammed; Al Hazzaa, Selwa; Hegele, Robert A.; Ober, Carole; Frosk, Patrick; Mhanni, Aizeddin A.; Chodirker, Bernard N.; Chudley, Albert E.; Lamont, Ryan; Bernier, Francois P.; Beaulieu, Chandree L.; Gordon, Paul; Pon, Richard T.; Donahue, Clem; Barkovich, A. James; Wolf, Louis; Toomes, Carmel; Thiel, Christian T.; Boycott, Kym M.; McKibbin, Martin; Inglehearn, Chris F.; Stewart, Fiona; Omran, Heymut; Huynen, Martijn A.; Sergouniotis, Panagiotis I.; Alkuraya, Fowzan S.; Parboosingh, Jillian S.; Innes, A. Micheil; Willoughby, Colin E.; Giles, Rachel H.; Webster, Andrew R.; Ueffing, Marius; Blacque, Oliver; Gleeson, Joseph G.; Wolfrum, Uwe; Beales, Philip L.; Gibson, Toby; Doherty, Dan; Mitchison, Hannah M.; Roepman, Ronald; Johnson, Colin A.
Nat Cell Biol
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology
Academic Journal
Teunis J P van Dam; Julie Kennedy; Robin van der Lee; Erik de Vrieze; Kirsten A Wunderlich; Suzanne Rix; Gerard W Dougherty; Nils J Lambacher; Chunmei Li; Victor L Jensen; Michel R Leroux; Rim Hjeij; Nicola Horn; Yves Texier; Yasmin Wissinger; Jeroen van Reeuwijk; Gabrielle Wheway; Barbara Knapp; Jan F Scheel; Brunella Franco; Dorus A Mans; Erwin van Wijk; François Képès; Gisela G Slaats; Grischa Toedt; Hannie Kremer; Heymut Omran; Katarzyna Szymanska; Konstantinos Koutroumpas; Marius Ueffing; Thanh-Minh T Nguyen; Stef J F Letteboer; Machteld M Oud; Sylvia E C van Beersum; Miriam Schmidts; Philip L Beales; Qianhao Lu; Rachel H Giles; Radek Szklarczyk; Robert B Russell; Toby J Gibson; Colin A Johnson; Oliver E Blacque; Uwe Wolfrum; Karsten Boldt; Ronald Roepman; Victor Hernandez-Hernandez; Martijn A Huynen
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
Academic Journal
Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M. ; Slagle, Christopher E. ; Klena, Nikolai T. ; Dougherty, Gerard W. ; Kurkowiak, Małgorzata ; Loges, Niki T. ; Diggle, Christine P. ; Morante, Nicholas F.C. ; Gabriel, George C. ; Lemke, Kristi L. ; Li, You ; Pennekamp, Petra ; Menchen, Tabea ; Konert, Franziska ; Marthin, June Kehlet ; Mans, Dorus A. ; Letteboer, Stef J.F. ; Werner, Claudius ; Burgoyne, Thomas ; Westermann, Cordula ; Rutman, Andrew ; Carr, Ian M. ; O’Callaghan, Christopher ; Moya, Eduardo ; Chung, Eddie M.K. ; Sheridan, Eamonn ; Nielsen, Kim G. ; Roepman, Ronald ; Bartscherer, Kerstin ; Burdine, Rebecca D. ; Lo, Cecilia W. ; Omran, Heymut ; Mitchison, Hannah M.
In The American Journal of Human Genetics 4 September 2014 95(3):257-274
Academic Journal
Asaf Ta-Shma; Rim Hjeij; Zeev Perles; Gerard W Dougherty; Ibrahim Abu Zahira; Stef J F Letteboer; Dinu Antony; Alaa Darwish; Dorus A Mans; Sabrina Spittler; Christine Edelbusch; Sandra Cindrić; Tabea Nöthe-Menchen; Heike Olbrich; Friederike Stuhlmann; Isabella Aprea; Petra Pennekamp; Niki T Loges; Oded Breuer; Avraham Shaag; Azaria J J T Rein; Elif Yilmaz Gulec; Alper Gezdirici; Revital Abitbul; Nael Elias; Israel Amirav; Miriam Schmidts; Ronald Roepman; Orly Elpeleg; Heymut Omran
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
Academic Journal
Texier, Yves ; Toedt, Grischa ; Gorza, Matteo ; Mans, Dorus A. ; van Reeuwijk, Jeroen ; Horn, Nicola ; Willer, Jason ; Katsanis, Nicholas ; Roepman, Ronald ; Gibson, Toby J. ; Ueffing, Marius ; Boldt, Karsten
In Molecular & Cellular Proteomics May 2014 13(5):1382-1391
Academic Journal
Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L. M.; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Mans, Dorus A.; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F.; Ozyurek, Hamit; Dibooglu, Sel; Otto, Edgar A.; Liu, Yangfan; Davis, Erica E.; Hutter, Carolyn M.; Bammler, Theo K.; Farin, Frederico M.; Dorschner, Michael; Topcu, Meral; Zackai, Elaine H.; Rosenthal, Phillip; Owens, Kelly N.; Katsanis, Nicholas; Vincent, John B.; Hildebrandt, Friedhelm; Rubel, Edwin W.; Raible, David W.; Knoers, Nine V. A. M.; Chance, Phillip F.; Roepman, Ronald; Moens, Cecilia B.; Glass, Ian A.; Doherty, Dan
American Journal of Human Genetics, 83, 5, pp. 559-71
Academic Journal
Miriam Schmidts; Yuqing Hou; Claudio R. Cortés; Dorus A. Mans; Celine Huber; Karsten Boldt; Mitali Patel; Jeroen van Reeuwijk; Jean-Marc Plaza; Sylvia E. C. van Beersum; Zhi Min Yap; Stef J. F. Letteboer; S. Paige Taylor; Warren Herridge; Colin A. Johnson; Peter J. Scambler; Marius Ueffing; Hulya Kayserili; Deborah Krakow; Stephen M. King; Philip L. Beales; Lihadh Al-Gazali; Carol Wicking; Valerie Cormier-Daire; Ronald Roepman; Hannah M. Mitchison; George B. Witman; Saeed Al-Turki; Carl Anderson; Richard Anney; Dinu Antony; Jennifer Asimit; Mohammad Ayub; Jeff Barrett; Inês Barroso; Jamie Bentham; Shoumo Bhattacharya; Douglas Blackwood; Martin Bobrow; Elena Bochukova; Patrick Bolton; Chris Boustred; Gerome Breen; Marie-Jo Brion; Andrew Brown; Mattia Calissano; Keren Carss; Krishna Chatterjee; Lu Chen; Sebhattin Cirak; Peter Clapham; Gail Clement; Guy Coates; David Collier; Catherine Cosgrove; Tony Cox; Nick Craddock; Lucy Crooks; Sarah Curran; Allan Daly; Petr Danecek; George Davey Smith; Aaron Day-Williams; Ian Day; Richard Durbin; Sarah Edkins; Peter Ellis; David Evans; I. Sadaf Farooqi; Ghazaleh Fatemifar; David Fitzpatrick; Paul Flicek; Jamie Floyd; A. Reghan Foley; Chris Franklin; Marta Futema; Louise Gallagher; Tom Gaunt; Daniel Geschwind; Celia Greenwood; Detelina Grozeva; Xiaosen Guo; Hugh Gurling; Deborah Hart; Audrey Hendricks; Peter Holmans; Jie Huang; Steve E. Humphries; Matt Hurles; Pirro Hysi; David Jackson; Yalda Jamshidi; David Jewell; Joyce Chris; Jane Kaye; Thomas Keane; John Kemp; Karen Kennedy; Alastair Kent; Anja Kolb-Kokocinski; Genevieve Lachance; Cordelia Langford; Irene Lee; Rui Li; Yingrui Li; Liu Ryan; Jouko Lönnqvist; Margarida Lopes; Daniel G. MacArthur; Mangino Massimo; Jonathan Marchini; John Maslen; Shane McCarthy; Peter McGuffin; Andrew McIntosh; Andrew McKechanie; Andrew McQuillin; Yasin Memari; Sarah Metrustry; Josine Min; Alireza Moayyeri; James Morris; Dawn Muddyman; Francesco Muntoni; Kate Northstone; Michael O’Donovan; Stephen O’Rahilly; Alexandros Onoufriadis; Karim Oualkacha; Michael Owen; Aarno Palotie; Kalliope Panoutsopoulou; Victoria Parker; Jeremy Parr; Lavinia Paternoster; Tiina Paunio; Felicity Payne; John Perry; Olli Pietilainen; Vincent Plagnol; Michael A. Quail; Lydia Quaye; Lucy Raymond; Karola Rehnström; J. Brent Richards; Sue Ring; Graham R S Ritchie; David B. Savage; Nadia Schoenmakers; Robert K. Semple; Eva Serra; Hashem Shihab; So-Youn Shin; David Skuse; Kerrin Small; Carol Smee; Artigas María Soler; Nicole Soranzo; Lorraine Southam; Tim Spector; Beate St Pourcain; David St. Clair; Jim Stalker; Gabriela Surdulescu; Jaana Suvisaari; Ioanna Tachmazidou; Jing Tian; Nic Timpson; Martin Tobin; Ana Valdes; Margriet van Kogelenberg; Parthiban Vijayarangakannan; Louise Wain; Klaudia Walter; Jun Wang; Kirsten Ward; Ellie Wheeler; Ros Whittall; Hywel Williams; Kathy Williamson; Scott G. Wilson; Kim Wong; Tamieka Whyte; Xu ChangJiang; Eleftheria Zeggini; Feng Zhang; Hou-Feng Zheng
Nat Commun
Nature Communications
Nature Communications, 6, pp. 7074
Nature Communications
Nature Communications, 6, pp. 7074
Academic Journal
Lolkema, Martijn P.; Mans, Dorus A.; Ulfman, Laurien H.; Volpi, Stefano; Voest, Emile E.; Giles, Rachel H.
European Journal of Human Genetics, 16, 1, pp. 73-8
Academic Journal
Wills, Edgar S; te Morsche, René H M; van Reeuwijk, Jeroen; Horn, Nicola; Geomini, Iris; van de Laarschot, Liyanne F M; Mans, Dorus A; Ueffing, Marius; Boldt, Karsten; Drenth, Joost P H; Roepman, Ronald
Human Molecular Genetics. Nov 01, 2017 26(21):4190-4202
Academic Journal
Mans, Dorus A.; Lolkema, Martijn P.; Van Beest, Moniek; Daenen, Laura G.; Voest, Emile E.; Giles, Rachel H.
Experimental Cell Research. April 1, 2008, Vol. 314 Issue 6, p1229, 8 p.
Academic Journal
Ruxandra Bachmann-Gagescu; Margo Dona; Lisette Hetterschijt; Edith Tonnaer; Theo Peters; Erik de Vrieze; Dorus A Mans; Sylvia E C van Beersum; Ian G Phelps; Heleen H Arts; Jan E Keunen; Marius Ueffing; Ronald Roepman; Karsten Boldt; Dan Doherty; Cecilia B Moens; Stephan C F Neuhauss; Hannie Kremer; Erwin van Wijk
PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
Academic Journal
Oud, Machteld; Bonnard, Carine; Mans, Dorus; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin; Eskin, Ascia; Lee, Hane; Rupar, C; de Wagenaar, Nathalie; Wu, Ka; Lahiry, Piya; Pazour, Gregory; Nelson, Stanley; Hegele, Robert; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria; Reversade, Bruno; Arts, Heleen
Cilia
Cilia, 5, pp. 8
Paediatrics Publications
Cilia, 5, pp. 8
Paediatrics Publications
Academic Journal
Sebiha Cevik; Anna A W M Sanders; Erwin Van Wijk; Karsten Boldt; Lara Clarke; Jeroen van Reeuwijk; Yuji Hori; Nicola Horn; Lisette Hetterschijt; Anita Wdowicz; Andrea Mullins; Katarzyna Kida; Oktay I Kaplan; Sylvia E C van Beersum; Ka Man Wu; Stef J F Letteboer; Dorus A Mans; Toshiaki Katada; Kenji Kontani; Marius Ueffing; Ronald Roepman; Hannie Kremer; Oliver E Blacque
PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
Academic Journal
Tarkar, Aarti; Loges, Niki T.; Slagle, Christopher E.; Francis, Richard; Dougherty, Gerard W.; Tamayo, Joel V.; Shook, Brett; Cantino, Marie; Schwartz, Daniel; Jahnke, Charlotte; Olbrich, Heike; Werner, Claudius; Raidt, Johanna; Pennekamp, Petra; Abouhamed, Marouan; Hjeij, Rim; Kohler, Gabriele; Griese, Matthias; Li, You; Lemke, Kristi; Klena, Nikolas; Liu, Xiaoqin; Gabriel, George; Tobita, Kimimasa; Jaspers, Martine; Morgan, Lucy C.; Shapiro, Adam J.; Letteboer, Stef J.F.; Mans, Dorus A.; Carson, Johnny L.; Leigh, Margaret W.; Wolf, Whitney E.; Chen, Serafine; Lucas, Jane S.; Onoufriadis, Alexandros; Plagnol, Vincent; Schmidts, Miriam; Boldt, Karsten; Roepman, Ronald; Zariwala, Maimoona A.; Lo, Cecilia W.; Mitchison, Hannah M.; Knowles, Michael R.; LoTurco, Rebecca D.Burdine Joseph J.; Omran, Heymut
Nature Genetics. September 1, 2013, Vol. 45 Issue 9, p995, 13 p.
Academic Journal
Boldt, Karsten; Mans, Dorus A.; Won, Jungyeon; van Reeuwijk, Jeroen; Vogt, Andreas; Kinkl, Norbert; Letteboer, Stef J.F.; Hicks, Wanda L.; Hurd, Ron E.; Naggert, Jurgen K.; Texier, Yves; den Hollander, Anneke I.; Koenekoop, Robert K.; Bennett, Jean; Cremers, Frans P.M.; Gloeckner, Christian J.; Nishina, Patsy M.; Roepman, Ronald; Ueffing, Marius
Journal of Clinical Investigation. June, 2011, Vol. 121 Issue 6, p2169, 12 p.
Academic Journal
In BBA - Reviews on Cancer 2008 1786(2):114-125
Academic Journal
Snijders, Antoine M; Fridlyand, Jane; Mans, Dorus A; Segraves, Richard; Jain, Ajay N; Pinkel, Daniel; Albertson, Donna G
Oncogene. 22(28):4370-4379
Academic Journal
Mans, Dorus A; Vermaat, Joost S; Weijts, Bart G; van Rooijen, Ellen; van Reeuwijk, Jeroen; Boldt, Karsten; Daenen, Laura GM; van der Groep, Petra; Rowland, Benjamin D; Jans, Judith J; Roepman, Ronald; Voest, Emile E; van Diest, Paul J; Verhaar, Marianne C; de Bruin, Alain; Giles, Rachel H
The Journal of Pathology. Sep 01, 2013 231(1):117-129
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