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Items: 1 to 20 of 47

1.
C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman
JIMD Rep. 2017; 34: 27–32. Published online 2016 Aug 2. doi: 10.1007/8904_2016_7
PMCID:
PMC5509558
2.
S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré, S. E. H. Moore
Orphanet J Rare Dis. 2016; 11: 84. Published online 2016 Jun 24. doi: 10.1186/s13023-016-0468-1
PMCID:
PMC4919849
3.
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs, Hudson H. Freeze
Hum Mutat.
Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 653–660. Published online 2016 Mar 21. doi: 10.1002/humu.22983
PMCID:
PMC4907823
4.
Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber, Fowzan S. Alkuraya, Brahim Tabarki
JIMD Rep. 2016; 27: 107–112. Published online 2015 Oct 10. doi: 10.1007/8904_2015_504
PMCID:
PMC4867846
5.
Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez-Cerdá, Jaak Jaeken, Belén Pérez, Belén Pérez-Dueñas
Orphanet J Rare Dis. 2015; 10: 138. Published online 2015 Oct 26. doi: 10.1186/s13023-015-0358-y
PMCID:
PMC4623922
6.
Bobby G. Ng, Kimiyo Raymond, Martin Kircher, Kati J. Buckingham, Tim Wood, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Jonathan T.S. Wong, Fabiola Paoli Monteiro, Brett H. Graham, Sheryl Jackson, Rebecca Sparkes, Angela E. Scheuerle, Sara Cathey, Fernando Kok, James B. Gibson, Hudson H. Freeze
Hum Mutat.
Published in final edited form as: Hum Mutat. 2015 Nov; 36(11): 1048–1051. Published online 2015 Aug 27. doi: 10.1002/humu.22856
PMCID:
PMC4604052
7.
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J. Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall
Orphanet J Rare Dis. 2015; 10: 73. Published online 2015 Jun 12. doi: 10.1186/s13023-015-0289-7
PMCID:
PMC4504351
8.
Jaak Jaeken, Dirk Lefeber, Gert Matthijs
Eur J Hum Genet. 2014 Aug; 22(8) Published online 2014 Jan 15. doi: 10.1038/ejhg.2013.298
PMCID:
PMC4350603
9.
Jaak Jaeken, Dirk Lefeber, Gert Matthijs
Eur J Hum Genet. 2015 Feb; 23(2) Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.146
PMCID:
PMC4297893
10.
Jaak Jaeken, Dirk Lefeber, Gert Matthijs
Eur J Hum Genet. 2014 Sep; 22(9) Published online 2014 Feb 26. doi: 10.1038/ejhg.2014.29
PMCID:
PMC4135420
11.
Dr. Mohammed A. Sadat, Dr. Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J. Memoli, Miao He, Hugo Vega, Leo J.Y. Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C. Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E. Marciano, Madhuri Hegde, Yuxing Li, Katherine R. Calvo, Jennifer Stoddard, J. Shawn Justement, Jerome Jacques, Debra A. Long Priel, Danielle Murray, Peter Sun, Douglas B. Kuhns, Cornelius F. Boerkoel, John A. Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, Sergio D. Rosenzweig
N Engl J Med.
Published in final edited form as: N Engl J Med. 2014 Apr 24; 370(17): 1615–1625. Published online 2014 Apr 9. doi: 10.1056/NEJMoa1302846
PMCID:
PMC4066413
12.
Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen F. Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner
J Allergy Clin Immunol.
Published in final edited form as: J Allergy Clin Immunol. 2014 May; 133(5): 1400–1409.e5. Published online 2014 Feb 28. doi: 10.1016/j.jaci.2014.02.013
PMCID:
PMC4016982
13.
Jaak Jaeken, Thierry Hennet, Gert Matthijs, Hudson H. Freeze
Biochim Biophys Acta.
Published in final edited form as: Biochim Biophys Acta. 2009 Sep; 1792(9): 825–826. doi: 10.1016/j.bbadis.2009.08.005
PMCID:
PMC3917312
14.
Michelle T Lieu, Bobby G Ng, Jeffrey S Rush, Tim Wood, Monica J Basehore, Madhuri Hegde, Richard C Chang, Jose E Abdenur, Hudson H Freeze, Raymond Y Wang
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2013 Dec; 110(4): 484–489. Published online 2013 Oct 4. doi: 10.1016/j.ymgme.2013.09.016
PMCID:
PMC3909743
15.
Shiteshu Shrimal, Bobby G. Ng, Marie-Estelle Losfeld, Reid Gilmore, Hudson H. Freeze
Hum Mol Genet. 2013 Nov 15; 22(22): 4638–4645. Published online 2013 Jul 10. doi: 10.1093/hmg/ddt312
PMCID:
PMC3888133
16.
Wendy Vleugels, Micha A. Haeuptle, Bobby G. Ng, Jean-Claude Michalski, Roberta Battini, Carlo Dionisi-Vici, Mark D. Ludman, Jaak Jaeken, Franc-ois Foulquier, Hudson H. Freeze, Gert Matthijs, Thierry Hennet
Hum Mutat.
Published in final edited form as: Hum Mutat. 2009 Oct; 30(10): 10.1002/humu.21085. doi: 10.1002/humu.21085
PMCID:
PMC3869400
17.
Bradley S. Miller, Hudson H. Freeze, Georg F. Hoffmann, Kyriakie Sarafoglou
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2011 May; 103(1): 10.1016/j.ymgme.2011.01.016. Published online 2011 Feb 3. doi: 10.1016/j.ymgme.2011.01.016
PMCID:
PMC3869397
18.
Amy C. Yang, Bobby G. Ng, Steven A. Moore, Jeffrey Rush, Charles J. Waechter, Kimiyo M. Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 345–351. Published online 2013 Jun 28. doi: 10.1016/j.ymgme.2013.06.016
PMCID:
PMC3800268
19.
Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Holger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic-Vuksanovic, Lina Basel-Vanagaite, Guntram Borck, Jürgen Brämswig, Reinhard Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane-Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van Schaftingen, Ingo Kurth, Angela Huebner, Christian A. Hübner
Am J Hum Genet. 2013 Oct 3; 93(4): 727–734. doi: 10.1016/j.ajhg.2013.08.002
PMCID:
PMC3791256
20.
Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs, Jaak Jaeken
Orphanet J Rare Dis. 2012; 7: 94. Published online 2012 Dec 10. doi: 10.1186/1750-1172-7-94
PMCID:
PMC3697985

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