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Items: 1 to 20 of 36

1.
Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Loncarevic, Vlatka Mejaski-Bosnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo D. Salpietro, Sabrina Signorini, Gilda Rita Stringini, Alain Verloes, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente
Hum Mutat.
Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E432–E442. doi: 10.1002/humu.20924
PMCID:
PMC2635428
2.
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek
Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110
PMCID:
PMC3727992
3.
Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya
Am J Hum Genet. 2013 Mar 7; 92(3): 387–391. doi: 10.1016/j.ajhg.2013.01.008
PMCID:
PMC3591839
4.
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass
J Med Genet.
Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249
PMCID:
PMC3501959
5.
Robertino Karlo Mateo, Royce Johnson, Ordan J. Lehmann
Mol Vis. 2012; 18: 1301–1311. Published online 2012 May 30.
PMCID:
PMC3369896
6.
Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach
Eur J Hum Genet. 2011 Jan; 19(1): 115–117. Published online 2010 Aug 11. doi: 10.1038/ejhg.2010.132
PMCID:
PMC3039499
7.
Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss, Andreas Tzschach
Eur J Hum Genet. 2009 Jan; 17(1): 125–128. Published online 2008 Sep 10. doi: 10.1038/ejhg.2008.159
PMCID:
PMC2985958
8.
Manir Ali, Beatriz Buentello-Volante, Martin McKibbin, J. Alberto Rocha-Medina, Narcis Fernandez-Fuentes, Wilson Koga-Nakamura, Aruna Ashiq, Kamron Khan, Adam P. Booth, Grange Williams, Yasmin Raashid, Hussain Jafri, Aine Rice, Chris F. Inglehearn, Juan Carlos Zenteno
Mol Vis. 2010; 16: 1162–1168. Published online 2010 Jun 23.
PMCID:
PMC2901196
9.
Melissa A. Parisi
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229
PMCID:
PMC2797758
10.
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis
Hum Mutat.
Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590
PMCID:
PMC3918001
11.
S J Hornby, L Dandona, R B Jones, H Stewart, C E Gilbert
Br J Ophthalmol. 2003 Mar; 87(3): 336–340. doi: 10.1136/bjo.87.3.336
PMCID:
PMC1771576
12.
H Konrad, J C Merriam, I S Jones
Trans Am Ophthalmol Soc. 1995; 93: 219–244. doi: 10.1016/s0002-9394(14)70557-4
PMCID:
PMC1312059
13.
L. Morlé, M. Bozon, J.-C. Zech, N. Alloisio, A. Raas-Rothschild, C. Philippe, J.-C. Lambert, J. Godet, H. Plauchu, P. Edery
Am J Hum Genet. 2000 Dec; 67(6): 1592–1597. Published online 2000 Oct 13. doi: 10.1086/316894
PMCID:
PMC1287937
14.
J A Hurst, M Markiewicz, D Kumar, E M Brett
J Med Genet. 1988 Jul; 25(7): 494–497. doi: 10.1136/jmg.25.7.494
PMCID:
PMC1050528
15.
J C Lambert, N Ayraud, J Martin, R Mariani, M Ferrari, M Donzeau
J Med Genet. 1982 Jun; 19(3): 214–215. doi: 10.1136/jmg.19.3.214
PMCID:
PMC1048868
16.
A L Ogilvy-Stuart, A C Parsons
J Med Genet. 1991 Oct; 28(10): 695–700. doi: 10.1136/jmg.28.10.695
PMCID:
PMC1017057
17.
18.
J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, D Ophir
J Med Genet. 1988 Apr; 25(4): 230–232. doi: 10.1136/jmg.25.4.230
PMCID:
PMC1015502
19.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang
Mol Genet Genomic Med. 2020 Aug; 8(8): e1313. Published online 2020 Jun 15. doi: 10.1002/mgg3.1313
PMCID:
PMC7434750
20.
Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier
Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969
PMCID:
PMC10286643

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