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Items: 1 to 20 of 73

1.
Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck
BMC Ophthalmol. 2023; 23: 394. Published online 2023 Sep 26. doi: 10.1186/s12886-023-03136-4
PMCID:
PMC10523780
2.
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande
Clin Med Insights Case Rep. 2023; 16: 11795476231193896. Published online 2023 Aug 14. doi: 10.1177/11795476231193896
PMCID:
PMC10426295
3.
Ohad Wormser, Ygal Levy, Anna Bakhrat, Silvia Bonaccorsi, Lucia Graziadio, Maurizio Gatti, Ali AbuMadighem, Richard J McKenney, Kyoko Okada, Saad El Riati, Iris Har-Vardi, Mahmoud Huleihel, Eliahu Levitas, Ohad S Birk, Uri Abdu
J Med Genet.
Published in final edited form as: J Med Genet. 2021 Apr; 58(4): 254–263. Published online 2020 Jun 11. doi: 10.1136/jmedgenet-2020-106946
PMCID:
PMC10405349
4.
Markus Höpfler, Eva Absmeier, Sew-Yeu Peak-Chew, Evangelia Vartholomaiou, Lori A. Passmore, Ivana Gasic, Ramanujan S. Hegde
Mol Cell. 2023 Jul 6; 83(13): 2290–2302.e13. doi: 10.1016/j.molcel.2023.05.020
PMCID:
PMC10403363
5.
Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair
Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113
PMCID:
PMC10217928
6.
Benedict R. H. Turner, Charlotte Mellor, Clara McElroy, Natalie Bowen, Wenjia Gu, Chris Knill, Nobue Itasaki
Dev Dyn. 2023 Feb; 252(2): 276–293. Published online 2022 Sep 20. doi: 10.1002/dvdy.537
PMCID:
PMC10087933
7.
Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo
Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161
PMCID:
PMC9771268
8.
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti‐Pierri
Am J Med Genet A. 2022 Oct; 188(10): 3032–3040. Published online 2022 Jul 25. doi: 10.1002/ajmg.a.62911
PMCID:
PMC9545381
9.
Matthew R. Cring, Kacie J. Meyer, Charles C. Searby, Adam Hedberg-Buenz, Michael Cave, Michael G. Anderson, Kai Wang, Val C. Sheffield
Gene Ther.
Published in final edited form as: Gene Ther. 2022 May; 29(5): 227–235. Published online 2021 Mar 4. doi: 10.1038/s41434-021-00241-1
PMCID:
PMC9422088
10.
Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf
Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1
PMCID:
PMC9035000
11.
Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Genes (Basel) 2022 Feb; 13(2): 359. Published online 2022 Feb 16. doi: 10.3390/genes13020359
PMCID:
PMC8872353
12.
Hai‐Yan Tang, Fen Xie, Ru‐Chun Dai, Xiao‐Liu Shi
Mol Genet Genomic Med. 2021 Aug; 9(8): e1731. Published online 2021 Jul 2. doi: 10.1002/mgg3.1731
PMCID:
PMC8404240
13.
A J Barkovich, W V Good, T K Koch, B O Berg
AJNR Am J Neuroradiol. 1993 Sep-Oct; 14(5): 1119-37.
PMCID:
PMC8332760
14.
Stijn R. van de Plassche, Arjan P. M. de Brouwer
Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663
PMCID:
PMC8146938
15.
Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed
J Med Genet.
Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 85–94. Published online 2014 Dec 5. doi: 10.1136/jmedgenet-2014-102856
PMCID:
PMC8108008
16.
Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee
Genes (Basel) 2020 Nov; 11(11): 1356. Published online 2020 Nov 16. doi: 10.3390/genes11111356
PMCID:
PMC7697939
17.
Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F. Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa
Invest Ophthalmol Vis Sci. 2020 Sep; 61(11): 18. Published online 2020 Sep 11. doi: 10.1167/iovs.61.11.18
PMCID:
PMC7488618
18.
Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima
CEN Case Rep. 2020 Aug; 9(3): 260–265. Published online 2020 Apr 6. doi: 10.1007/s13730-020-00472-y
PMCID:
PMC7320120
19.
Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Ann Clin Transl Neurol. 2020 Jun; 7(6): 1013–1028. Published online 2020 Jun 9. doi: 10.1002/acn3.51074
PMCID:
PMC7318087
20.
Lotte Kleinendorst, Sanne I. M. Alsters, Ozair Abawi, Quinten Waisfisz, Elles M. J. Boon, Erica L. T. van den Akker, Mieke M. van Haelst
Eur J Hum Genet. 2020 Jul; 28(7): 943–946. Published online 2020 Mar 6. doi: 10.1038/s41431-020-0594-z
PMCID:
PMC7316806

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