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Items: 1 to 20 of 29

1.
Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim, Tae-Joon Cho
BMC Med Genet. 2019; 20: 70. Published online 2019 May 3. doi: 10.1186/s12881-019-0802-2
PMCID:
PMC6500034
2.
E Grunebaum, E Arpaia, J MacKenzie, J Fitzpatrick, P Ray, C Roifman
J Med Genet. 2001 Jun; 38(6): 409–411. doi: 10.1136/jmg.38.6.409
PMCID:
PMC1734897
3.
A. K. Gedeon, G. E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I. A. Glass, R. Savarirayan, W. G. Cole, D. L. Rimoin, B. G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J. C. Mulley
Am J Hum Genet. 2001 Jun; 68(6): 1386–1397. Published online 2001 May 8. doi: 10.1086/320592
PMCID:
PMC1226125
4.
L E Bernard, D Chitayat, R Weksberg, M I Van Allen, S Langlois
J Med Genet. 1996 May; 33(5): 432–434. doi: 10.1136/jmg.33.5.432
PMCID:
PMC1050619
5.
Rossella Venditti, Tiziana Scanu, Michele Santoro, Giuseppe Di Tullio, Alexander Spaar, Renato Gaibisso, Galina V. Beznoussenko, Alexander A. Mironov, Alexander Mironov, Jr., Leopoldo Zelante, Maria Rosaria Piemontese, Angelo Notarangelo, Vivek Malhotra, Barbara M. Vertel, Cathal Wilson, Maria Antonietta De Matteis
Science.
Published in final edited form as: Science. 2012 Sep 28; 337(6102): 1668–1672. doi: 10.1126/science.1224947
PMCID:
PMC3471527
6.
Min Zong, Xing-gang Wu, Cecilia W. L. Chan, Mei Y. Choi, Hsiao Chang Chan, Julian A. Tanner, Sidney Yu
PLoS One. 2011; 6(8): e23350. Published online 2011 Aug 15. doi: 10.1371/journal.pone.0023350
PMCID:
PMC3156116
7.
Jeshmi Jeyabalan, M. Andrew Nesbit, Juris Galvanovskis, Richard Callaghan, Patrik Rorsman, Rajesh V. Thakker
PLoS One. 2010; 5(5): e10646. Published online 2010 May 14. doi: 10.1371/journal.pone.0010646
PMCID:
PMC2871040
8.
Asish K. Ghosh, Mainak Majumder, Robert Steele, Robert A. White, Ratna B. Ray
Mol Cell Biol. 2001 Jan; 21(2): 655–662. doi: 10.1128/MCB.21.2.655-662.2001
PMCID:
PMC86643
9.
Miroslav P. Milev, Benedeta Hasaj, Djenann Saint-Dic, Sary Snounou, Qingchuan Zhao, Michael Sacher
J Cell Biol. 2015 Apr 27; 209(2): 221–234. doi: 10.1083/jcb.201501090
PMCID:
PMC4411272
10.
Feng Xiong, Jianjun Gao, Jun Li, Yun Liu, Guoyin Feng, Wenli Fang, Hongfen Chang, Jiang Xie, Haitao Zheng, Tingyu Li, Lin He
Eur J Hum Genet. 2009 Apr; 17(4): 510–516. Published online 2008 Nov 12. doi: 10.1038/ejhg.2008.219
PMCID:
PMC2986207
11.
Jane J. Kim, Zhanna Lipatova, Nava Segev
Front Cell Dev Biol. 2016; 4: 20. Published online 2016 Mar 30. doi: 10.3389/fcell.2016.00020
PMCID:
PMC4811894
12.
P. James Scrivens, Baraa Noueihed, Nassim Shahrzad, Sokunthear Hul, Stephanie Brunet, Michael Sacher
Mol Biol Cell. 2011 Jun 15; 22(12): 2083–2093. doi: 10.1091/mbc.E10-11-0873
PMCID:
PMC3113772
13.
James E. Tomkins, Sybille Dihanich, Alexandra Beilina, Raffaele Ferrari, Nicolò Ilacqua, Mark R. Cookson, Patrick A. Lewis, Claudia Manzoni
Proteomics. 2018 May; 18(10): 1700444. Published online 2018 Apr 17. doi: 10.1002/pmic.201700444
PMCID:
PMC5992104
14.
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
15.
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286
16.
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
17.
Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell
Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116
PMCID:
PMC9037554
18.
Mathew E. Sowa, Eric J. Bennett, Steven P. Gygi, J. Wade Harper
Cell.
Published in final edited form as: Cell. 2009 Jul 23; 138(2): 389–403. Published online 2009 Jul 16. doi: 10.1016/j.cell.2009.04.042
PMCID:
PMC2716422
19.
Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe
EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67
PMCID:
PMC2683047
20.
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588

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