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Items: 1 to 20 of 3635

1.
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L. Beales
J Am Soc Nephrol. 2017 Mar; 28(3): 963–970. Published online 2016 Sep 22. doi: 10.1681/ASN.2015091029
PMCID:
PMC5328148
2.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya
Indian J Ophthalmol. 2016 Sep; 64(9): 620–627. doi: 10.4103/0301-4738.194328
PMCID:
PMC5151149
3.
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
4.
Katie Weihbrecht, Wesley A. Goar, Thomas Pak, Janelle E. Garrison, Adam P. DeLuca, Edwin M. Stone, Todd E. Scheetz, Val C. Sheffield
Med Res Arch.
Published in final edited form as: Med Res Arch. 2017 Sep; 5(9): 10.18103/mra.v5i9.1526. Published online 2017 Sep 18.
PMCID:
PMC5814251
5.
Evgeny N. Suspitsin, Evgeny N. Imyanitov
Mol Syndromol. 2016 May; 7(2): 62–71. Published online 2016 Apr 15. doi: 10.1159/000445491
PMCID:
PMC4906432
6.
Naila Haq, Christoph Schmidt-Hieber, Fernando J. Sialana, Lorenza Ciani, Janosch P. Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J. Rodenburg, Patrick M. Nolan, Elizabeth Forsythe, Michael C. Wu, Gert Lubec, P. Salinas, Michael Häusser, Philip L. Beales, Sofia Christou-Savina
PLoS Biol. 2019 Sep; 17(9): e3000414. Published online 2019 Sep 3. doi: 10.1371/journal.pbio.3000414
PMCID:
PMC6743795
7.
Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Ital J Pediatr. 2019; 45: 72. Published online 2019 Jun 13. doi: 10.1186/s13052-019-0659-1
PMCID:
PMC6567512
8.
A. Panny, I. Glurich, R.M. Haws, A. Acharya
J Dent Res. 2017 Nov; 96(12): 1361–1369. Published online 2017 Jun 29. doi: 10.1177/0022034517716913
PMCID:
PMC5652854
9.
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L. Beales
Front Pediatr. 2018; 6: 23. Published online 2018 Feb 13. doi: 10.3389/fped.2018.00023
PMCID:
PMC5816783
10.
O. M'hamdi, I. Ouertani, H. Chaabouni-Bouhamed
Mol Syndromol. 2014 Feb; 5(2): 51–56. Published online 2013 Dec 20. doi: 10.1159/000357054
PMCID:
PMC3977223
11.
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde
Front Mol Biosci. 2017; 4: 55. Published online 2017 Jul 31. doi: 10.3389/fmolb.2017.00055
PMCID:
PMC5534436
12.
Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani
Indian J Med Res. 2018 Feb; 147(2): 177–182. doi: 10.4103/ijmr.IJMR_1822_15
PMCID:
PMC5991121
13.
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-ud-din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
Mol Vis. 2017; 23: 482–494. Published online 2017 Jul 21.
PMCID:
PMC5524433
14.
Emad Nikkhah, Reza Safaralizadeh, Javad Mohammadiasl, Maryam Tahmasebi Birgani, Mohammad Ali Hosseinpour Feizi, Neda Golchin
Cell J. 2018 Summer; 20(2): 284–289. Published online 2018 Mar 18. doi: 10.22074/cellj.2018.5012.
PMCID:
PMC5893301
15.
Seongjin Seo, Deng-Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, Val C. Sheffield
Hum Mol Genet. 2009 Apr 1; 18(7): 1323–1331. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp031
PMCID:
PMC2655773
16.
Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis
Am J Hum Genet. 2016 Aug 4; 99(2): 318–336. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2015.04.023
PMCID:
PMC4974085
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.
Susan J. Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C. Cramer, John C.S. Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson, Patrick S. Parfrey
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2005 Feb 1; 132A(4): 352–360. doi: 10.1002/ajmg.a.30406
PMCID:
PMC3295827
19.
María Álvarez‐Satta, Sheila Castro‐Sánchez, Guillermo Pousada, Diana Valverde
J Cell Mol Med. 2017 Oct; 21(10): 2268–2275. Published online 2017 May 13. doi: 10.1111/jcmm.13147
PMCID:
PMC5618670
20.
Corey L. Williams, Cedric R. Uytingco, Warren W. Green, Jeremy C. McIntyre, Kirill Ukhanov, Arthur D. Zimmerman, Dana T. Shively, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield, Jeffrey R. Martens
Mol Ther. 2017 Apr 5; 25(4): 904–916. Published online 2017 Feb 22. doi: 10.1016/j.ymthe.2017.02.006
PMCID:
PMC5383630

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