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Items: 1 to 20 of 157

1.
Xuefang Pan, Antoine Caillon, Shuxian Fan, Shaukat Khan, Shunji Tomatsu, Alexey V. Pshezhetsky
Cells. 2024 May; 13(10): 877. Published online 2024 May 20. doi: 10.3390/cells13100877
PMCID:
PMC11120110
2.
Hongjun Zhao, Lijing Wang, Mengfei Zhang, Huakun Wang, Sizhe Zhang, Junjiao Wu, Yu Tang
J Cell Mol Med. 2024 Apr; 28(8): e18307. Published online 2024 Apr 13. doi: 10.1111/jcmm.18307
PMCID:
PMC11015392
3.
Maurizio Romagnuolo, Chiara Moltrasio, Serena Gasperini, Angelo Valerio Marzano, Stefano Cambiaghi
Children (Basel) 2023 Dec; 10(12): 1920. Published online 2023 Dec 13. doi: 10.3390/children10121920
PMCID:
PMC10742075
4.
Jessica Ludwig, Onkar B. Sawant, Jill Wood, Srikanth Singamsetty, Xuefang Pan, Vera L. Bonilha, Sujata Rao, Alexey V. Pshezhetsky
Exp Eye Res.
Published in final edited form as: Exp Eye Res. 2023 Apr; 229: 109433. Published online 2023 Feb 27. doi: 10.1016/j.exer.2023.109433
PMCID:
PMC10103010
5.
Camila Pará, Poulomee Bose, Luigi Bruno, Erika Freemantle, Mahsa Taherzadeh, Xuefang Pan, Chanshuai Han, Peter S. McPherson, Jean-Claude Lacaille, Éric Bonneil, Pierre Thibault, Claire O’Leary, Brian Bigger, Carlos Ramon Morales, Graziella Di Cristo, Alexey V. Pshezhetsky
JCI Insight. 2021 Aug 9; 6(15): e142073. Published online 2021 Aug 9. doi: 10.1172/jci.insight.142073
PMCID:
PMC8410035
6.
Xianyu Liu, Tayyaba Najam, Ghulam Yasin, Mohan Kumar, Miao Wang
ACS Omega. 2021 Jul 13; 6(27): 17247–17254. Published online 2021 Jun 29. doi: 10.1021/acsomega.1c01042
PMCID:
PMC8280674
7.
Elena R. Schiff, Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba‐Abbad, Savita Nutan, Wadih M. Zein, Ehsan Ullah, Laryssa A. Huryn, Sari Tuupanen, Omar A. Mahroo, Michel Michaelides, Derek Burke, Katie Harvey, Gavin Arno, Robert B. Hufnagel, Andrew R. Webster
Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 631–643. Published online 2020 Aug 7. doi: 10.1002/ajmg.c.31822
PMCID:
PMC8125330
8.
Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac Canals
J Clin Med. 2020 Mar; 9(3): 644. Published online 2020 Feb 28. doi: 10.3390/jcm9030644
PMCID:
PMC7141323
9.
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Eur J Hum Genet. 2017 Feb; 25(2): 253–256. Published online 2016 Nov 9. doi: 10.1038/ejhg.2016.149
PMCID:
PMC5255949
10.
Isaac Canals, Jordi Soriano, Javier G. Orlandi, Roger Torrent, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Simone Merlin, Antonia Follenzi, Antonella Consiglio, Lluïsa Vilageliu, Daniel Grinberg, Angel Raya
Stem Cell Reports. 2015 Oct 13; 5(4): 546–557. Published online 2015 Sep 24. doi: 10.1016/j.stemcr.2015.08.016
PMCID:
PMC4625033
11.
Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu, Daniel Grinberg
Sci Rep. 2015; 5: 13654. Published online 2015 Sep 8. doi: 10.1038/srep13654
PMCID:
PMC4561882
12.
Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M. Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. Den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben-Yosef
Hum Mol Genet. 2015 Jul 1; 24(13): 3742–3751. Published online 2015 Apr 9. doi: 10.1093/hmg/ddv118
PMCID:
PMC4459392
13.
Liliana Matos, Isaac Canals, Larbi Dridi, Yoo Choi, Maria João Prata, Peter Jordan, Lourdes R Desviat, Belén Pérez, Alexey V Pshezhetsky, Daniel Grinberg, Sandra Alves, Lluïsa Vilageliu
Orphanet J Rare Dis. 2014; 9: 180. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0180-y
PMCID:
PMC4279800
14.
Hee Jae Huh, Ja Young Seo, Sung Yoon Cho, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Hyung-Doo Park, Dong-Kyu Jin
Ann Lab Med. 2013 Jan; 33(1): 75–79. Published online 2012 Dec 17. doi: 10.3343/alm.2013.33.1.75
PMCID:
PMC3535201
15.
Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, Jiří Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare E. Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, T. Mary Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky
Am J Hum Genet. 2006 Nov; 79(5): 807–819. Published online 2006 Sep 8. doi: 10.1086/508294
PMCID:
PMC1698556
16.
U Klein, H Kresse, K von Figura
Proc Natl Acad Sci U S A. 1978 Oct; 75(10): 5185–5189. doi: 10.1073/pnas.75.10.5185
PMCID:
PMC336290
17.
Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro
Mol Genet Genomic Med. 2022 Sep; 10(9): e2013. Published online 2022 Jul 18. doi: 10.1002/mgg3.2013
PMCID:
PMC9482386
18.
Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L.A. Nguyen, TianMeng Xu, Camila Pará, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey V. Pshezhetsky
J Exp Med. 2022 Aug 1; 219(8): e20211860. Published online 2022 Jun 15. doi: 10.1084/jem.20211860
PMCID:
PMC9204472
19.
Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A. Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu
PLoS One. 2015; 10(8): e0135873. Published online 2015 Aug 19. doi: 10.1371/journal.pone.0135873
PMCID:
PMC4545610
20.
Stéphanie Durand, Matthew Feldhammer, Éric Bonneil, Pierre Thibault, Alexey V. Pshezhetsky
J Biol Chem. 2010 Oct 8; 285(41): 31233–31242. Published online 2010 Jul 22. doi: 10.1074/jbc.M110.141150
PMCID:
PMC2951197

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