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Items: 1 to 20 of 35

1.
María Larrañaga Cores, Ana Boto de los Bueis
Rom J Ophthalmol. 2023 Oct-Dec; 67(4): 412–415. doi: 10.22336/rjo.2023.66
PMCID:
PMC10793370
2.
Silvia Hernández-García, Hugo González Valdivia, Joan Prat Bartomeu, Jorge Sánchez Molina
Indian J Ophthalmol. 2023 Apr; 71(4): 1651–1653. Published online 2023 Apr 5. doi: 10.4103/IJO.IJO_3260_22
PMCID:
PMC10276720
3.
Jubara Alallah, Loujen Omar Alamoudi, Reham Mohmmed Makki, Aiman Shawli, Alaa T. AlHarbi
Int J Pediatr Adolesc Med. 2022 Jun; 9(2): 143–146. Published online 2021 Oct 9. doi: 10.1016/j.ijpam.2021.10.002
PMCID:
PMC9152555
4.
Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff, Julie Harvengt
Orphanet J Rare Dis. 2022; 17: 174. Published online 2022 Apr 23. doi: 10.1186/s13023-022-02323-8
PMCID:
PMC9034487
5.
Kiran Singh, Khaled Borghol, Rhodri Williams, Kevin McMillan
BMJ Case Rep. 2021; 14(8): e241530. Published online 2021 Aug 3. doi: 10.1136/bcr-2020-241530
PMCID:
PMC8336181
6.
Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat
BMJ Case Rep. 2021; 14(7): e240397. Published online 2021 Jul 12. doi: 10.1136/bcr-2020-240397
PMCID:
PMC8276156
7.
Yin-Huai Chen, Giedre Grigelioniene, Phillip T. Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam I.Y. Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier-Daire, Holm H. Uhlig
J Exp Med. 2020 Mar 2; 217(3): e20191306. Published online 2020 Jan 8. doi: 10.1084/jem.20191306
PMCID:
PMC7062520
8.
Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley
BMJ Case Rep. 2018; 2018: bcr2017222863. Published online 2018 Feb 8. doi: 10.1136/bcr-2017-222863
PMCID:
PMC5836637
9.
Alexandra E. Oxford, Cheryl L. Jorcyk, Julia Thom Oxford
J Neurol Neuromedicine.
Published in final edited form as: J Neurol Neuromedicine. 2016; 1(7): 37–44. doi: 10.29245/2572.942x/2016/7.1068
PMCID:
PMC5207777
10.
Débora Romeo Bertola, Rachel S. Honjo, Wagner A.R. Baratela
Mol Syndromol. 2016 Apr; 7(1): 12–18. Published online 2016 Mar 16. doi: 10.1159/000444729
PMCID:
PMC4862397
11.
Megan Knipe, Rowan Stanbury, Sheila Unger, Mallinath Chakraborty
BMJ Case Rep. 2015; 2015: bcr2015212032. Published online 2015 Aug 31. doi: 10.1136/bcr-2015-212032
PMCID:
PMC4693133
12.
Júlia Hatagami Marques, Guilherme Lopes Yamamoto, Larissa de Cássia Testai, Alexandre da Costa Pereira, Chong Ae Kim, Maria R. Passos-Bueno, Débora Romeo Bertola
Mol Syndromol. 2015 Jul; 6(2): 87–90. Published online 2015 May 27. doi: 10.1159/000407418
PMCID:
PMC4521069
13.
Mariarosa A B Melone, Michael J Pellegrino, Maria Nolano, Beth A Habecker, Stefan Johansson, Neil M Nathanson, Per M Knappskog, Angelika F Hahn, Helge Boman
Ann Clin Transl Neurol. 2014 Nov; 1(11): 926–932. Published online 2014 Oct 24. doi: 10.1002/acn3.126
PMCID:
PMC4265064
14.
Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara, Julia Thom Oxford
Orphanet J Rare Dis. 2014; 9: 34. Published online 2014 Mar 12. doi: 10.1186/1750-1172-9-34
PMCID:
PMC3995696
15.
Anita Catavorello, Salvatore Giovanni Vitale, Diego Rossetti, Lisa Caldaci, Marco Marzio Panella
J Prenat Med. 2013 Jul-Sep; 7(3): 35–38.
PMCID:
PMC3808941
16.
Roshan Koul, Adila Al-Kindy, Renjith Mani, Dilip Sankhla, Amna Al-Futaisi
Sultan Qaboos Univ Med J. 2013 May; 13(2): 301–305. Published online 2013 May 9. doi: 10.12816/0003238
PMCID:
PMC3706122
17.
Samuel Bellais, Carine Le Goff, Nathalie Dagoneau, Arnold Munnich, Valérie Cormier-Daire
Eur J Hum Genet. 2010 Jan; 18(1): 130–132. Published online 2009 Jul 15. doi: 10.1038/ejhg.2009.122
PMCID:
PMC2987166
18.
L I Al-Gazali, M Varghese, E Varady, J Al Talabani, J Scorer, D Bakalinova
J Med Genet. 1996 Mar; 33(3): 203–211. doi: 10.1136/jmg.33.3.203
PMCID:
PMC1051868
19.
K A Brown, L I al-Gazali, L M Moynihan, N J Lench, A F Markham, R F Mueller
J Med Genet. 1997 Aug; 34(8): 685–687. doi: 10.1136/jmg.34.8.685
PMCID:
PMC1051035
20.
Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, Peter Nürnberg, Frank Rutsch
Am J Hum Genet. 2007 May; 80(5): 971–981. Published online 2007 Mar 30. doi: 10.1086/516843
PMCID:
PMC1852730

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