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Items: 1 to 20 of 323

1.
Kerry A. Miller, Casey J. Ah-Cann, Megan F. Welfare, Tiong Y. Tan, Kate Pope, Georgina Caruana, Mary-Louise Freckmann, Ravi Savarirayan, John F. Bertram, Michael S. Dobbie, John F. Bateman, Peter G. Farlie
PLoS Genet. 2013 Aug; 9(8): e1003746. Published online 2013 Aug 29. doi: 10.1371/journal.pgen.1003746
PMCID:
PMC3757063
2.
Wataru Saito, Gen Inoue, Takayuki Imura, Toshiyuki Nakazawa, Masayuki Miyagi, Takanori Namba, Eiki Shirasawa, Naonobu Takahira, Masashi Takaso
Scoliosis Spinal Disord. 2016; 11: 7. Published online 2016 Mar 2. doi: 10.1186/s13013-016-0069-8
PMCID:
PMC4900239
3.
Kewal A. Mistry, Pokhraj P. Suthar, Siddharth R. Bhesania, Ankitkumar Patel
Pol J Radiol. 2015; 80: 296–299. Published online 2015 Jun 7. doi: 10.12659/PJR.894188
PMCID:
PMC4463774
4.
Mehmet I. Buget, Emine Ozkan, Ipek S. Edipoglu, Suleyman Kucukay
Case Rep Anesthesiol. 2015; 2015: 509196. Published online 2015 Aug 23. doi: 10.1155/2015/509196
PMCID:
PMC4561095
5.
Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
EMBO Mol Med. 2020 Nov 6; 12(11): e11739. Published online 2020 Oct 14. doi: 10.15252/emmm.201911739
PMCID:
PMC7645380
6.
Bruno Drera, Daniela Ferrari, Pietro Cavalli, Carlo Poggiani
Clin Case Rep. 2014 Aug; 2(4): 156–158. Published online 2014 Jun 2. doi: 10.1002/ccr3.85
PMCID:
PMC4184654
7.
J. de Vries, J. L. Yntema, C. E. van Die, N. Crama, E. A. M. Cornelissen, B. C. J. Hamel
Eur J Pediatr. 2010 Jan; 169(1): 77–88. Published online 2009 May 10. doi: 10.1007/s00431-009-0991-3
PMCID:
PMC2776156
8.
Steven J Keogh, Shane McKee, Sarah F Smithson, David Grier, Colin G Steward
BMC Pediatr. 2012; 12: 48. Published online 2012 May 3. doi: 10.1186/1471-2431-12-48
PMCID:
PMC3457858
9.
Aideen M. McInerney-Leo, Miriam Schmidts, Claudio R. Cortés, Paul J. Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica A. Harris, Yeping Lu, Mhairi Marshall, UK10K Consortium, Peter J. Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking
Am J Hum Genet. 2013 Sep 5; 93(3): 515–523. doi: 10.1016/j.ajhg.2013.06.022
PMCID:
PMC3769922
10.
Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, Claudio R. Cortés, Aideen M. McInerney-Leo, Richard D. Emes, Heleen H. Arts, Beyhan Tüysüz, Jason D’Silva, Paul J. Leo, Tom C. Giles, Machteld M. Oud, Jessica A. Harris, Marije Koopmans, Mhairi Marshall, Nursel Elçioglu, Alma Kuechler, Detlef Bockenhauer, Anthony T. Moore, Louise C. Wilson, Andreas R. Janecke, Matthew E. Hurles, Warren Emmet, Brooke Gardiner, Berthold Streubel, Belinda Dopita, Andreas Zankl, Hülya Kayserili, Peter J. Scambler, Matthew A. Brown, Philip L. Beales, Carol Wicking, UK10K, Emma L. Duncan, Hannah M. Mitchison
Am J Hum Genet. 2013 Nov 7; 93(5): 932–944. doi: 10.1016/j.ajhg.2013.10.003
PMCID:
PMC3824113
11.
L A Brueton, M J Dillon, R M Winter
J Med Genet. 1990 Apr; 27(4): 252–255. doi: 10.1136/jmg.27.4.252
PMCID:
PMC1017028
12.
Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M. Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan-Stephan F. Sanders, Irene Stolte-Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Cécile Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine V.A.M. Knoers, Ronald Roepman, Heleen H. Arts
Am J Hum Genet. 2011 Nov 11; 89(5): 634–643. doi: 10.1016/j.ajhg.2011.10.001
PMCID:
PMC3213394
13.
PL Prasad, AN Prasad
Med J Armed Forces India. 2006 Jul; 62(3): 293–294. Published online 2011 Jul 21. doi: 10.1016/S0377-1237(06)80028-6
PMCID:
PMC4922868
14.
Piet Leroy, Margriet Martens, Nina Schott, Nicolle Cobben
Eur J Pediatr. 2010 Mar; 169(3): 375–376. Published online 2009 Aug 27. doi: 10.1007/s00431-009-1049-2
PMCID:
PMC2812421
15.
Nimeh Najjar, Martin Cerda, Jorge Trabanco, Vinoo Ramsaran, James Cury
Respir Med Case Rep. 2018; 25: 327–329. Published online 2018 Oct 23. doi: 10.1016/j.rmcr.2018.10.016
PMCID:
PMC6214860
16.
Laura Vuolo, Nicola L Stevenson, Kate J Heesom, David J Stephens
eLife. 2018; 7: e39655. Published online 2018 Oct 16. doi: 10.7554/eLife.39655
PMCID:
PMC6211827
17.
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
PLoS One. 2016; 11(3): e0150555. Published online 2016 Mar 14. doi: 10.1371/journal.pone.0150555
PMCID:
PMC4790905
18.
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, UK10K
Nat Commun. 2015; 6: 7074. Published online 2015 Jun 5. doi: 10.1038/ncomms8074
PMCID:
PMC4468853
19.
Shelley Hancock, Curtis Froehlich, Veronica Armijo-Garcia, Andrew D. Meyer
Perfusion.
Published in final edited form as: Perfusion. 2018 Nov; 33(8): 696–698. Published online 2018 May 23. doi: 10.1177/0267659118778173
PMCID:
PMC7309530
20.
Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna M. Lehman, Peter Trnka, Patrick Nitschké, Christine Bole-Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul J. Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane L. Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter J. Scambler, Shing H. Zhan, Steven J. Jones, Hülya Kayserili, Beyhan Tuysuz, Khemchand N. Moorani, Alexandru Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, UK10K Consortium, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt
Am J Hum Genet. 2013 Nov 7; 93(5): 915–925. doi: 10.1016/j.ajhg.2013.09.012
PMCID:
PMC3824130

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