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Items: 1 to 20 of 81

1.
Jesper Dammeyer
Behav Brain Funct. 2012; 8: 16. Published online 2012 Mar 27. doi: 10.1186/1744-9081-8-16
PMCID:
PMC3337277
2.
Uta Francke, Hans D. Ochs, Bérengère de Martinville, Joseph Giacalone, Valerie Lindgren, Christine Distèche, Roberta A. Pagon, Marten H. Hofker, Gert-Jan B. van Ommen, Peter L. Pearson, Ralph J. Wedgwood
Am J Hum Genet. 1985 Mar; 37(2): 250–267.
PMCID:
PMC1684578
3.
M. WARBURG, R. RIISE, P. BEALES, F. FLINTER
J Med Genet. 2000 Dec; 37(12): e46. doi: 10.1136/jmg.37.12.e46
PMCID:
PMC1734488
4.
K. Wybar
Proc R Soc Med. 1967 Feb; 60(2): 158–163.
PMCID:
PMC1901607
5.
M. A. Aldred, K. L. Dry, E. B. Knight-Jones, L. J. Hardwick, P. W. Teague, D. H. Lester, J. Brown, G. Spowart, A. D. Carothers, J. A. Raeburn, A. C. Bird, A. R. Fielder, A. F. Wright
Am J Hum Genet. 1994 Nov; 55(5): 916–922.
PMCID:
PMC1918325
6.
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Apr 11; 82(4): 1011–1018. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.021
PMCID:
PMC2427291
7.
W Seifert, M Holder‐Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn
J Med Genet. 2006 May; 43(5): e22. doi: 10.1136/jmg.2005.039867
PMCID:
PMC2564527
8.
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Nov 17; 83(5): 656. doi: 10.1016/j.ajhg.2008.10.005
PMCID:
PMC2674770
9.
Claude Bouchard
Am J Clin Nutr. 2009 May; 89(5): 1494S–1501S. Published online 2009 Mar 4. doi: 10.3945/ajcn.2009.27113C
PMCID:
PMC2677002
10.
Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss
PLoS One. 2012; 7(1): e28936. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0028936
PMCID:
PMC3260153
11.
Alberta A. H. J. Thiadens, Niki W. R. Slingerland, Ralph J. Florijn, Gerhard H. Visser, Frans C. Riemslag, Caroline C. W. Klaver
Graefes Arch Clin Exp Ophthalmol. 2012; 250(5): 769–774. Published online 2012 Jan 31. doi: 10.1007/s00417-011-1857-8
PMCID:
PMC3332371
12.
A E Harding, I J Holt, M G Sweeney, M Brockington, M B Davis
Am J Hum Genet. 1992 Mar; 50(3): 629–633.
PMCID:
PMC1684296
13.
Maha S Zaki, Shifteh Sattar, Rustin A Massoudi, Joseph G Gleeson
Am J Med Genet A. 2011 Dec; 155(12): 3042–3049. Published online 2011 Oct 14. doi: 10.1002/ajmg.a.34173
PMCID:
PMC3415794
14.
Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu-Dramard, Catherine Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire de Baracé, Valérie Drouin-Garraud, Philippe Khau Van Kien, Valérie Cormier-Daire, Michèle Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron
Orphanet J Rare Dis. 2014; 9: 207. Published online 2014 Dec 11. doi: 10.1186/s13023-014-0207-4
PMCID:
PMC4266234
15.
Kelly Mason, Laura Page, Pinar Gumus Balikcioglu
Pediatr Ann.
Published in final edited form as: Pediatr Ann. 2014 Sep; 43(9): e218–e224. doi: 10.3928/00904481-20140825-08
PMCID:
PMC4369917
16.
E Forsythe, K Sparks, BE Hoskins, E Bagkeris, BM McGowan, PV Carroll, MSB Huda, S Mujahid, C Peters, T Barrett, S Mohammed, PL Beales
Clin Genet. 2015 Apr; 87(4): 343–349. Published online 2014 Apr 8. doi: 10.1111/cge.12373
PMCID:
PMC4402025
17.
Danielle D. Brinckman, Kim M. Keppler-Noreuil, Catherine Blumhorst, Leslie G. Biesecker, Julie C. Sapp, Jennifer J. Johnston, Edythe A. Wiggs
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2013 Dec; 0(12): 2964–2971. Published online 2013 Nov 5. doi: 10.1002/ajmg.a.36245
PMCID:
PMC4419571
18.
Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger
BMC Med Genet. 2016; 17: 10. Published online 2016 Feb 4. doi: 10.1186/s12881-016-0271-9
PMCID:
PMC4743198
19.
Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani V. Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart P. Leroy, Elfride De Baere
Am J Hum Genet. 2016 Aug 4; 99(2): 470–480. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.06.017
PMCID:
PMC4974088
20.
Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019
PMCID:
PMC5223094

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