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Items: 1 to 20 of 283

1.
Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, Francois P. Bernier, Albert E. Chudley, Thomas Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra M. Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott
Am J Hum Genet. 2011 Dec 9; 89(6): 713–730. doi: 10.1016/j.ajhg.2011.11.005
PMCID:
PMC3234373
2.
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9
PMCID:
PMC11055696
3.
Hyeong-Min Kim, Hyun-Seok Jo, Jae-Young Han, In-Sung Choi, Min-Keun Song, Hyeng-Kyu Park
Medicine (Baltimore) 2024 Apr 26; 103(17): e37987. Published online 2024 Apr 26. doi: 10.1097/MD.0000000000037987
PMCID:
PMC11049732
4.
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai
BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0
PMCID:
PMC11046915
5.
Gjorgji Bozhinovski, Marija Terzikj, Katerina Kubelka-Sabit, Dijana Plaseska-Karanfilska
Balkan Med J. 2024 Mar; 41(2): 97–104. Published online 2024 Mar 1. doi: 10.4274/balkanmedj.galenos.2024.2023-10-72
PMCID:
PMC10913109
6.
Richard Sather, III, Jacie Ihinger, Michael Simmons, Glenn P. Lobo, Sandra R. Montezuma
Int J Mol Sci. 2024 Jan; 25(2): 1253. Published online 2024 Jan 19. doi: 10.3390/ijms25021253
PMCID:
PMC10816538
7.
Mazzotta C., Serpieri V., Orsi A., Cavan S., Rossi E., Stanzial F., Valente E.M.
Stem Cell Res. 2024 Feb; 74: 103267. doi: 10.1016/j.scr.2023.103267
PMCID:
PMC10805004
8.
Ming Shen Tham, Denny L. Cottle, Allara K. Zylberberg, Kieran M. Short, Lynelle K. Jones, Perkin Chan, Sarah E. Conduit, Jennifer M. Dyson, Christina A. Mitchell, Ian M. Smyth
Nat Commun. 2024; 15: 371. Published online 2024 Jan 8. doi: 10.1038/s41467-023-44410-9
PMCID:
PMC10774271
9.
Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa
Medicine (Baltimore) 2023 Nov 24; 102(47): e35600. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000035600
PMCID:
PMC10681469
10.
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun
BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1
PMCID:
PMC10666333
11.
Anastasia Binder, Susanne Kohl, Ute Grasshoff, Karin Schäferhoff, Katarina Stingl
Doc Ophthalmol. 2023; 147(3): 203–209. Published online 2023 Aug 29. doi: 10.1007/s10633-023-09940-z
PMCID:
PMC10638109
12.
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
J Int Med Res. 2023 Oct; 51(10): 03000605231206294. Published online 2023 Nov 1. doi: 10.1177/03000605231206294
PMCID:
PMC10621312
13.
Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu
BMC Med Genomics. 2023; 16: 221. Published online 2023 Sep 21. doi: 10.1186/s12920-023-01669-7
PMCID:
PMC10512497
14.
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
J Med Genet. 2023 Sep; 60(9): 885–893. Published online 2023 Feb 14. doi: 10.1136/jmg-2022-108725
PMCID:
PMC10447400
15.
Hong WEN, Lu CHEN, Kai YAN, Jing HE
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08
PMCID:
PMC10396837
16.
Balram Gangaram, W. Patrick Devine, Anne Slavotinek
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496
PMCID:
PMC10369588
17.
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis
Sci Rep. 2023; 13: 9369. Published online 2023 Jun 9. doi: 10.1038/s41598-023-32169-4
PMCID:
PMC10256716
18.
张 广宇, 赵 云霞, 赵 会玲, 唐 国皓, 王 鹏亮, 朱 登纳
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069
PMCID:
PMC10247204
19.
Lidvana Spahiu, John A Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj
Version 2. F1000Res. 2022; 11: 388. Published online 2023 Mar 31. doi: 10.12688/f1000research.109628.2
PMCID:
PMC10196526
20.
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5
PMCID:
PMC10155342

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