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Links from MedGen

Items: 1 to 20 of 71

1.
James Virth, Heather G. Mack, Deb Colville, Emma Crockett, Judy Savige
Pediatr Nephrol. 2024; 39(2): 357–369. Published online 2023 Jul 20. doi: 10.1007/s00467-023-06068-9
PMCID:
PMC10728251
2.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
3.
Rui Fang, Pei-Lin Yue, Hai-Long Li, Xue-Fei Ding, Yu-Xuan Jia, Zhao-Chuan Liu, Hong-Gang Zhou, Xu-Dong Song
BMC Ophthalmol. 2023; 23: 461. Published online 2023 Nov 16. doi: 10.1186/s12886-023-03202-x
PMCID:
PMC10652440
4.
Pek Kei Im, Neil Wright, Ling Yang, Ka Hung Chan, Yiping Chen, Yu Guo, Huaidong Du, Xiaoming Yang, Daniel Avery, Shaojie Wang, Canqing Yu, Jun Lv, Robert Clarke, Junshi Chen, Rory Collins, Robin G. Walters, Richard Peto, Liming Li, Zhengming Chen, Iona Y. Millwood, China Kadoorie Biobank Collaborative Group
Nat Med. 2023; 29(6): 1476–1486. Published online 2023 Jun 8. doi: 10.1038/s41591-023-02383-8
PMCID:
PMC10287564
5.
Bo Ma, Wenpei Zhang, Xiaochen Wang, Huili Jiang, Li Tang, Wen Yang, Qianyan Kang, Juan Cao
Med Sci Monit. 2023; 29: e937702-1–e937702-15. Prepublished online 2023 Jan 3. Published online 2023 Jan 30. doi: 10.12659/MSM.937702
PMCID:
PMC9896844
6.
Ilaria Maccora, Athimalaipet V. Ramanan, Daniel Wiseman, Edoardo Marrani, Maria V. Mastrolia, Gabriele Simonini
J Clin Immunol. 2023; 43(1): 1–30. Published online 2022 Aug 19. doi: 10.1007/s10875-022-01343-0
PMCID:
PMC9840570
7.
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Orphanet J Rare Dis. 2022; 17: 434. Published online 2022 Dec 13. doi: 10.1186/s13023-022-02591-4
PMCID:
PMC9749289
8.
Zhixing Cheng, Xun Wang, Qiwei Wang, Xulin Zhang, Dongni Wang, Weiming Huang, Meimei Dongye, Xiaocheng Feng, Danying Zheng, Haotian Lin
Genes (Basel) 2022 Nov; 13(11): 1987. Published online 2022 Oct 31. doi: 10.3390/genes13111987
PMCID:
PMC9690445
9.
Lachlan S.W. Knight, Sean Mullany, Deepa A. Taranath, Jonathan B. Ruddle, Christopher P. Barnett, Suzanne C.E.H. Sallevelt, Ella C. Berry, Henry N. Marshall, Georgina L. Hollitt, Emmanuelle Souzeau, Jamie E. Craig, Owen M. Siggs
Mol Vis. 2022; 28: 257–268. Published online 2022 Sep 4.
PMCID:
PMC9514546
10.
Mallika Prem Senthil, Lachlan S. W. Knight, Deepa Taranath, David A. Mackey, Jonathan B. Ruddle, Mark Y. Chiang, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig
Cornea. 2022 Aug; 41(8): 1009–1015. Published online 2022 Mar 30. doi: 10.1097/ICO.0000000000003020
PMCID:
PMC9390227
11.
Rani Saira Saleem, Sorath Noorani Siddiqui, Saba Irshad, Naeem Mahmood Ashraf, Arslan Hamid, Muhammad Azmat Ullah Khan, Muhammad Imran Khan, Shazia Micheal
Mol Genet Genomic Med. 2022 Aug; 10(8): e1985. Published online 2022 May 31. doi: 10.1002/mgg3.1985
PMCID:
PMC9356559
12.
Tavé van Zyl, Wenjun Yan, Alexi M. McAdams, Aboozar Monavarfeshani, Gregory S. Hageman, Joshua R. Sanes
Proc Natl Acad Sci U S A. 2022 Jul 19; 119(29): e2200914119. Published online 2022 Jul 15. doi: 10.1073/pnas.2200914119
PMCID:
PMC9303934
13.
Susanna C. Larsson, Stephen Burgess
eBioMedicine. 2022 Aug; 82: 104154. Published online 2022 Jul 8. doi: 10.1016/j.ebiom.2022.104154
PMCID:
PMC9278068
14.
Harry Levine, Paula A. Sepulveda-Beltran, Diego S. Altamirano, Alfonso L. Sabater, Sander R. Dubovy, Harry W. Flynn, Guillermo Amescua
Cornea.
Published in final edited form as: Cornea. 2022 Feb 1; 41(2): 224–231. doi: 10.1097/ICO.0000000000002897
PMCID:
PMC8916615
15.
Cuiyun Zhou, Xiaoqiong Huang, Xia Li, Yan Xiong
Bioengineered. 2021; 12(1): 8953–8964. Published online 2021 Oct 28. doi: 10.1080/21655979.2021.1990196
PMCID:
PMC8806953
16.
Shuai Yuan, Alicja Wolk, Susanna C. Larsson
Sci Rep. 2022; 12: 409. Published online 2022 Jan 10. doi: 10.1038/s41598-021-04515-x
PMCID:
PMC8748724
17.
Yuyan You, Chao Bai, Xuefeng Liu, Yan Lu, Ting Jia, Maohua Xia, Yanqiang Yin, Wei Wang, Yucun Chen, Chenglin Zhang, Yan Liu, Liqin Wang, Tianchun Pu, Tao Ma, Yanhui Liu, Jun Zhou, Lili Niu, Suhui Xu, Yanxia Ni, Xin Hu, Zengshuai Zhang
BMC Genom Data. 2021; 22: 44. Published online 2021 Oct 27. doi: 10.1186/s12863-021-00996-x
PMCID:
PMC8555103
18.
Vidya Nair, Rajkumar Sankaranarayanan, Abhay Raghukant Vasavada
Indian J Ophthalmol. 2021 Aug; 69(8): 2064–2070. Published online 2021 Jul 26. doi: 10.4103/ijo.IJO_3062_20
PMCID:
PMC8482906
19.
Lance P. Doucette, Nicole C. L. Noel, Yi Zhai, Manlong Xu, Oana Caluseriu, Stephanie C. Hoang, Alina J. Radziwon, Ian M. MacDonald
Eur J Hum Genet. 2021 Aug; 29(8): 1171–1185. Published online 2021 Mar 29. doi: 10.1038/s41431-021-00872-3
PMCID:
PMC8385108
20.
Johanna L. Jones, Mark A. Corbett, Elise Yeaman, Duran Zhao, Jozef Gecz, Robert J. Gasperini, Jac C. Charlesworth, David A. Mackey, James E. Elder, Jamie E. Craig, Kathryn P. Burdon
Eur J Hum Genet. 2021 Aug; 29(8): 1206–1215. Published online 2021 Apr 19. doi: 10.1038/s41431-021-00889-8
PMCID:
PMC8385038

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