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Items: 1 to 20 of 4399

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.
Laura Florea, Lavinia Caba, Eusebiu Vlad Gorduza
Genes (Basel) 2021 Sep; 12(9): 1353. Published online 2021 Aug 29. doi: 10.3390/genes12091353
PMCID:
PMC8465569
5.
Emanuela Marchese, Margherita Ruoppolo, Alessandra Perna, Giovambattista Capasso, Miriam Zacchia
Kidney Int Rep. 2020 Sep; 5(9): 1403–1415. Published online 2020 Jun 29. doi: 10.1016/j.ekir.2020.06.017
PMCID:
PMC7486190
6.
Suvi Mäkeläinen, Minas Hellsand, Anna Darlene van der Heiden, Elina Andersson, Elina Thorsson, Bodil S. Holst, Jens Häggström, Ingrid Ljungvall, Cathryn Mellersh, Finn Hallböök, Göran Andersson, Björn Ekesten, Tomas F. Bergström
Genes (Basel) 2020 Sep; 11(9): 1090. Published online 2020 Sep 18. doi: 10.3390/genes11091090
PMCID:
PMC7565673
7.
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
8.
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
9.
Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, Sheraz Khan, Azita Sadeghpour, Laurențiu C. Bohîlțea, Erica E. Davis, Mihaela Bălgrădean
Biomed Rep. 2021 Dec; 15(6): 103. Published online 2021 Oct 21. doi: 10.3892/br.2021.1479
PMCID:
PMC8567465
10.
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
11.
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
12.
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
13.
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
14.
Isabelle Koscinski, Manuel Mark, Nadia Messaddeq, Jean Jacques Braun, Catherine Celebi, Jean Muller, Anna Zinetti-Bertschy, Nathalie Goetz, Hélène Dollfus, Sylvie Rossignol
J Clin Endocrinol Metab. 2020 Dec; 105(12): e4417–e4429. Published online 2020 Aug 25. doi: 10.1210/clinem/dgaa551
PMCID:
PMC7538103
15.
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
16.
Samuel M. Peterson, Trevor J. McGill, Teresa Puthussery, Jonathan Stoddard, Lauren Renner, Anne D. Lewis, Lois M. A. Colgin, Jacqueline Gayet, Xiaojie Wang, Kamm Prongay, Cassandra Cullin, Brandy Dozier, Betsy Ferguson, Martha Neuringer
Exp Eye Res.
Published in final edited form as: Exp Eye Res. 2019 Dec; 189: 107825. Published online 2019 Oct 4. doi: 10.1016/j.exer.2019.107825
PMCID:
PMC7064310
17.
Ghazanfar Ali, Sadia, Jia Nee Foo, Abdul Nasir, Chu-Hua Chang, Elaine GuoYan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-ul-Batool, Syed Akif Raza Kazmi, Naheed Bashir Awan, Abdul Hameed Khan, Fazal-Ur- Rehman, Madiha Khalid, Abdul Wali, Samina Sarwar, Wasim Akhtar, Ansar Ahmed Abbasi, Rameez Nisar
Biomed Res Int. 2021; 2021: 6626015. Published online 2021 Feb 23. doi: 10.1155/2021/6626015
PMCID:
PMC7925018
18.
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
19.
Deng-Fu Guo, Kamal Rahmouni
Am J Physiol Cell Physiol. 2019 Sep 1; 317(3): C457–C465. Published online 2019 Jun 19. doi: 10.1152/ajpcell.00498.2018
PMCID:
PMC6766617
20.
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

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