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Links from MedGen

Items: 1 to 20 of 57

1.
Fanfan Huang, Yanyi Chen, Jiaxue Wu, Shijie Zheng, Rongxi Huang, Wenjuan Wan, Ke Hu
Mol Med Rep. 2025 Feb; 31(2): 46. Published online 2024 Dec 3. doi: 10.3892/mmr.2024.13411
PMCID:
PMC11638740
2.
Qinyou Mo, Xinyu Liu, Weiming Gong, Yunzhuang Wang, Zhongshang Yuan, Xiubin Sun, Shukang Wang
Int J Mol Sci. 2024 Oct; 25(19): 10236. Published online 2024 Sep 24. doi: 10.3390/ijms251910236
PMCID:
PMC11476976
3.
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
4.
Joevy Z. Lim, Alexandra Z. Crawford, Charles N. J. McGhee
Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 44. Published online 2023 Oct 27. doi: 10.1167/iovs.64.13.44
PMCID:
PMC10617633
5.
Yin-Hsi Chang, Yhu-Chering Huang, Hung-Chi Chen, David H. K. Ma, Lung-Kun Yeh, Kuo-Hsuan Hung, Ching-Hsi Hsiao
Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 33. Published online 2023 Oct 20. doi: 10.1167/iovs.64.13.33
PMCID:
PMC10599164
6.
Hasnaa M. Elbendary, Dana Marafi, Ahmed K Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N. Jhangiani, Richard A. Gibbs, Davut Pehlivan, Daniel Calame, Jennifer E. Posey, James R. Lupski, Maha S. Zaki
Clin Genet.
Published in final edited form as: Clin Genet. 2023 Sep; 104(3): 344–349. Published online 2023 May 9. doi: 10.1111/cge.14348
PMCID:
PMC10524748
7.
Hong‐Li Liu, Dao‐Wei Zhang, Fang‐Yuan Hu, Ping Xu, Sheng‐Hai Zhang, Ji‐Hong Wu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2196. Published online 2023 Jun 20. doi: 10.1002/mgg3.2196
PMCID:
PMC10496047
8.
Cecilia Sena, Grazia Iannello, Alicja A. Skowronski, Katelyn Dannheim, Leonard Cheung, Pankaj B. Agrawal, Joel N. Hirschhorn, Phillip Zeitler, Charles A. LeDuc, George Stratigopoulos, Vidhu V. Thaker
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Dec; 59(12): 1171–1178. Published online 2022 Jul 8. doi: 10.1136/jmedgenet-2022-108490
PMCID:
PMC10186212
9.
Sushil K. Sangwan, Namrata Sharma, Tushar Agarwal, Neena Khanna, Ravindra M. Pandey, Arundhati Sharma, Rasik B. Vajpayee
Mol Vis. 2022; 28: 526–535. Published online 2022 Dec 31.
PMCID:
PMC10115362
10.
H. O. Heyne, J. Karjalainen, K. J. Karczewski, S. M. Lemmelä, W. Zhou, FinnGen, A. S. Havulinna, M. Kurki, H. L. Rehm, A. Palotie, M. J. Daly
Nature. 2023; 613(7944): 519–525. Published online 2023 Jan 18. doi: 10.1038/s41586-022-05420-7
PMCID:
PMC9849130
11.
Georgios K. Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos
Int J Mol Sci. 2022 Dec; 23(24): 15507. Published online 2022 Dec 7. doi: 10.3390/ijms232415507
PMCID:
PMC9778724
12.
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
13.
Daniel Jackson, Samantha Malka, Philippa Harding, Juliana Palma, Hannah Dunbar, Mariya Moosajee
Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 578–589. Published online 2020 Aug 23. doi: 10.1002/ajmg.c.31837
PMCID:
PMC8432170
14.
Xinru Li, Nuo Si, Zixun Song, Yaqiong Ren, Wei Xiao
Orphanet J Rare Dis. 2021; 16: 242. Published online 2021 May 31. doi: 10.1186/s13023-021-01873-7
PMCID:
PMC8165991
15.
Suzannah Bell, Samantha Malka, Ian Christopher Lloyd, Mariya Moosajee
Genes (Basel) 2021 Feb; 12(2): 131. Published online 2021 Jan 21. doi: 10.3390/genes12020131
PMCID:
PMC7909819
16.
Shauna A. Rasmussen, Jennifer M.I. Daenzer, Judith L. Fridovich-Keil
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2021 Jan; 44(1): 272–281. Published online 2020 Sep 17. doi: 10.1002/jimd.12311
PMCID:
PMC7855732
17.
Yan Sun, Wei Li, Jian‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen
Mol Genet Genomic Med. 2020 Apr; 8(4): e1184. Published online 2020 Feb 26. doi: 10.1002/mgg3.1184
PMCID:
PMC7196472
18.
Thibaud S Boutin, David G Charteris, Aman Chandra, Susan Campbell, Caroline Hayward, Archie Campbell, UK Biobank Eye & Vision Consortium, Priyanka Nandakumar, David Hinds, 23andMe Research Team , Danny Mitry, Veronique Vitart
Hum Mol Genet. 2020 Mar 13; 29(4): 689–702. Published online 2019 Dec 9. doi: 10.1093/hmg/ddz294
PMCID:
PMC7068119
19.
Zhenyu Wang, Chen Huang, Huibin Lv, Mingzhou Zhang, Xuemin Li
PLoS One. 2020; 15(1): e0227859. Published online 2020 Jan 14. doi: 10.1371/journal.pone.0227859
PMCID:
PMC6959596
20.
Alaumy Joshi, Minhaj Shaikh, Shubham Singh, Abinaya Rajendran, Amol Mhetre, Siddhesh S. Kamat
J Biol Chem. 2018 Nov 2; 293(44): 16953–16963. Published online 2018 Sep 20. doi: 10.1074/jbc.RA118.005640
PMCID:
PMC6217928

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