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Items: 1 to 20 of 21

1.
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
Medicine (Baltimore) 2017 Jan; 96(1): e5545. Published online 2017 Jan 10. doi: 10.1097/MD.0000000000005545
PMCID:
PMC5228656
2.
Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki
Am J Hum Genet. 2012 Mar 9; 90(3): 540–549. doi: 10.1016/j.ajhg.2012.02.002
PMCID:
PMC3309194
3.
T.A. Briggs, M. Hubbard, C. Hawkins, T. Cole, J.H. Livingston, Y.J. Crow, A. Pigott
Mol Syndromol. 2011 Jan; 1(4): 159–162. Published online 2010 Nov 9. doi: 10.1159/000321559
PMCID:
PMC3042118
4.
Avery E. Sears, Caroline C. Awh, Shafeeque Kunhiabdullah, Jonathan E. Sears, Danny A. Mammo
J Vitreoretin Dis. 2023 Jan-Feb; 7(1): 74–78. Published online 2022 Oct 17. doi: 10.1177/24741264221129430
PMCID:
PMC9954154
5.
Kushal U. Agrawal, Nicholas E. Kalafatis, Carol L. Shields
Am J Ophthalmol Case Rep. 2022 Dec; 28: 101713. Published online 2022 Sep 21. doi: 10.1016/j.ajoc.2022.101713
PMCID:
PMC9513731
6.
Noufissa Oudrhiri, Radhia M’kacher, Diana Chaker, Bruno Colicchio, Claire Borie, Eric Jeandidier, Alain Dieterlen, Frank Griscelli, Annelise Bennaceur-Griscelli, Ali G. Turhan
Genes (Basel) 2022 Aug; 13(8): 1395. Published online 2022 Aug 5. doi: 10.3390/genes13081395
PMCID:
PMC9407572
7.
Selcen Bozkurt, Ayse Merve Usta, Nafiye Urganci, Nida Gulderen Kalay, Gulsen Kose, Evrim Ozmen
BMC Pediatr. 2022; 22: 119. Published online 2022 Mar 8. doi: 10.1186/s12887-022-03140-5
PMCID:
PMC8903628
8.
Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker
Mol Genet Genomic Med. 2021 Dec; 9(12): e1708. Published online 2021 Jun 10. doi: 10.1002/mgg3.1708
PMCID:
PMC8683631
9.
Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg-Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik-Wolf, Elena Ribakovsky, Carlos Simon, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech
J Exp Med. 2016 Jul 25; 213(8): 1429–1440. doi: 10.1084/jem.20151618
PMCID:
PMC4986528
10.
Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar, Mohammed Faruq
BMC Med Genet. 2015; 16: 5. Published online 2015 Feb 10. doi: 10.1186/s12881-015-0151-8
PMCID:
PMC4422476
11.
Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Debora R. Precioso, David Sillence, Fuki M. Hisama, Michael Dorschner, George M. Martin, Junko Oshima
Mol Genet Genomic Med. 2018 Nov; 6(6): 1148–1156. Published online 2018 Nov 4. doi: 10.1002/mgg3.495
PMCID:
PMC6305643
12.
Sarah W. Cai, John C. Zinder, Vladimir Svetlov, Martin W. Bush, Evgeny Nudler, Thomas Walz, Titia de Lange
Nat Struct Mol Biol. 2022; 29(8): 813–819. Published online 2022 May 16. doi: 10.1038/s41594-022-00766-y
PMCID:
PMC9371972
13.
Arunabh Choudhury, Taj Mohammad, Nikhil Samarth, Afzal Hussain, Md. Tabish Rehman, Asimul Islam, Mohamed F. Alajmi, Shailza Singh, Md. Imtaiyaz Hassan
Sci Rep. 2021; 11: 10202. Published online 2021 May 13. doi: 10.1038/s41598-021-89450-7
PMCID:
PMC8119478
14.
Yuan Wang, Weihang Chai
Nucleic Acids Res. 2018 May 4; 46(8): 3981–3992. Published online 2018 Feb 22. doi: 10.1093/nar/gky114
PMCID:
PMC5934659
15.
Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns, M. Elizabeth Ross
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2009 Feb; 149A(2): 129–137. doi: 10.1002/ajmg.a.32630
PMCID:
PMC2800951
16.
Kazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, Jun-ichi Takanashi, Eriko Koshimizu, Satoko Miyatake, Kazuhiro Iwama, Takeshi Mizuguchi, Naomichi Matsumoto, Taku Omata
Radiol Case Rep. 2023 Mar; 18(3): 1217–1220. Published online 2023 Jan 12. doi: 10.1016/j.radcr.2022.11.033
PMCID:
PMC9842793
17.
Michael J. Allingham
Ophthalmic Surg Lasers Imaging Retina.
Published in final edited form as: Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1; 47(4): 366–368. doi: 10.3928/23258160-20160324-11
PMCID:
PMC5217527
18.
Yaming Wang, Gang Cheng, Chao Dong, Jianning Zhang, Yuhong Meng
J Med Case Rep. 2013; 7: 151. Published online 2013 Jun 6. doi: 10.1186/1752-1947-7-151
PMCID:
PMC3688496
19.
Hiroyuki Takai, Emma Jenkinson, Shaheen Kabir, Riyana Babul-Hirji, Nasrin Najm-Tehrani, David A. Chitayat, Yanick J. Crow, Titia de Lange
Genes Dev. 2016 Apr 1; 30(7): 812–826. doi: 10.1101/gad.276873.115
PMCID:
PMC4826397
20.
Peili Gu, Sandy Chang
Aging Cell.
Published in final edited form as: Aging Cell. 2013 Dec; 12(6): 1100–1109. Published online 2013 Sep 4. doi: 10.1111/acel.12139
PMCID:
PMC4083614

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