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Items: 1 to 20 of 29

1.
Aleksandra Jezela-Stanek, Paulina Pokora, Marlena Młynek, Marta Smyk, Kamila Ziemkiewicz, Agnieszka Różdżyńska-Świątkowska, Anna Tylki-Szymańska
Clin Dysmorphol. 2021 Apr; 30(2): 76–82. Published online 2020 Dec 7. doi: 10.1097/MCD.0000000000000344
PMCID:
PMC8868176
2.
Koji Matsuhisa, Kazunori Imaizumi
Int J Mol Sci. 2021 Nov; 22(22): 12227. Published online 2021 Nov 12. doi: 10.3390/ijms222212227
PMCID:
PMC8618218
3.
Francesca D’Avanzo, Laura Rigon, Alessandra Zanetti, Rosella Tomanin
Int J Mol Sci. 2020 Feb; 21(4): 1258. Published online 2020 Feb 13. doi: 10.3390/ijms21041258
PMCID:
PMC7072947
4.
Yi-bin Guo, Jing-xin Pan, Ya-xian Meng
J Zhejiang Univ Sci B. 2007 Aug; 8(8): 566–569. doi: 10.1631/jzus.2007.B0566
PMCID:
PMC1934951
6.
7.
S. CUDRY, I. TIGAUD, R. FROISSART, V. BONNET, I. MAIRE, D. BOZON
J Med Genet. 2000 Oct; 37(10): e29. doi: 10.1136/jmg.37.10.e29
PMCID:
PMC1757154
8.
E Vafiadaki, A Cooper, L Heptinstall, C Hatton, M Thornley, J Wraith
Arch Dis Child. 1998 Sep; 79(3): 237–241. doi: 10.1136/adc.79.3.237
PMCID:
PMC1717680
9.
J Mossman, S Blunt, R Stephens, E E Jones, M Pembrey
Arch Dis Child. 1983 Nov; 58(11): 911–915. doi: 10.1136/adc.58.11.911
PMCID:
PMC1628393
10.
G Millat, R Froissart, I Maire, D Bozon
Biochem J. 1997 Aug 15; 326(Pt 1): 243–247. doi: 10.1042/bj3260243
PMCID:
PMC1218661
11.
J Bielicki, C Freeman, P R Clements, J J Hopwood
Biochem J. 1990 Oct 1; 271(1): 75–86. doi: 10.1042/bj2710075
PMCID:
PMC1149515
12.
Emma Parkinson-Lawrence, Christopher Turner, John Hopwood, Doug Brooks
Biochem J. 2005 Mar 1; 386(Pt 2): 395–400. Prepublished online 2004 Oct 25. Published online 2005 Feb 22. doi: 10.1042/BJ20040739
PMCID:
PMC1134805
13.
P J Wilson, C P Morris, D S Anson, T Occhiodoro, J Bielicki, P R Clements, J J Hopwood
Proc Natl Acad Sci U S A. 1990 Nov; 87(21): 8531–8535. doi: 10.1073/pnas.87.21.8531
PMCID:
PMC54990
14.
Mykhaylo Demydchuk, Chris H. Hill, Aiwu Zhou, Gábor Bunkóczi, Penelope E. Stein, Denis Marchesan, Janet E. Deane, Randy J. Read
Nat Commun. 2017; 8: 15786. Published online 2017 Jun 8. doi: 10.1038/ncomms15786
PMCID:
PMC5472762
15.
M. Rathmann, S. Bunge, M. Beck, H. Kresse, A. Tylki-Szymanska, A. Gal
Am J Hum Genet. 1996 Dec; 59(6): 1202–1209.
PMCID:
PMC1914889
16.
Ester Zito, Alessandro Fraldi, Stefano Pepe, Ida Annunziata, Gary Kobinger, Paola Di Natale, Andrea Ballabio, Maria Pia Cosma
EMBO Rep. 2005 Jul; 6(7): 655–660. Published online 2005 Jun 17. doi: 10.1038/sj.embor.7400454
PMCID:
PMC1369113
17.
Elizabeth T Cirulli, Dalia Kasperavičiūtė, Deborah K Attix, Anna C Need, Dongliang Ge, Greg Gibson, David B Goldstein
Eur J Hum Genet. 2010 Jul; 18(7): 815–820. Published online 2010 Feb 3. doi: 10.1038/ejhg.2010.2
PMCID:
PMC2987367
18.
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
19.
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
20.
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730

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