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Items: 1 to 20 of 39

1.
Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, Tania Attié-Bitach
Am J Hum Genet. 2007 Jan; 80(1): 186–194. Published online 2006 Nov 15. doi: 10.1086/510499
PMCID:
PMC1785313
2.
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
3.
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
4.
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
5.
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
6.
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant
Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568
PMCID:
PMC9844136
7.
Simone Gana, Valentina Serpieri, Enza Maria Valente
Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 72–88. Published online 2022 Mar 3. doi: 10.1002/ajmg.c.31963
PMCID:
PMC9314610
8.
Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078
PMCID:
PMC8304314
9.
Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Mol Genet Genomic Med. 2021 Jun; 9(6): e1682. Published online 2021 Apr 6. doi: 10.1002/mgg3.1682
PMCID:
PMC8222854
10.
Yoko Takagi, Kenichiro Miura, Tomoo Yabuuchi, Naoto Kaneko, Kiyonobu Ishizuka, Mariko Takei, Chikage Yajima, Yuka Ikeuchi, Yasuko Kobayashi, Takumi Takizawa, Masataka Hisano, Yoshinori Tsurusaki, Naomichi Matsumoto, Motoshi Hattori
Sci Rep. 2021; 11: 462. Published online 2021 Jan 11. doi: 10.1038/s41598-020-80712-4
PMCID:
PMC7801635
11.
Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh
BMC Med Genet. 2020; 21: 18. Published online 2020 Jan 30. doi: 10.1186/s12881-020-0962-0
PMCID:
PMC6993522
12.
Anna Strongin, Theo Heller, Dan Doherty, Ian A. Glass, Melissa A. Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, May C. Malicdan, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun
J Pediatr Gastroenterol Nutr.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2018 Mar; 66(3): 428–435. doi: 10.1097/MPG.0000000000001816
PMCID:
PMC5825259
13.
Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517
PMCID:
PMC5718273
14.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D
J Med Genet.
Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087
PMCID:
PMC5082428
15.
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
J Med Genet. 2016 Sep; 53(9): 608–615. Published online 2016 May 6. doi: 10.1136/jmedgenet-2016-103832
PMCID:
PMC5013089
16.
Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong
Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63
PMCID:
PMC5007639
17.
Hester Y Kroes, Glen R Monroe, Bert van der Zwaag, Karen J Duran, Carolien G de Kovel, Mark J van Roosmalen, Magdalena Harakalova, Ies J Nijman, Wigard P Kloosterman, Rachel H Giles, Nine VAM Knoers, Gijs van Haaften
Eur J Hum Genet. 2016 Feb; 24(2): 214–220. Published online 2015 Apr 29. doi: 10.1038/ejhg.2015.84
PMCID:
PMC4717206
18.
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092
PMCID:
PMC4545386
19.
Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymanska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A. Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David A. Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra M. Bell, Jacquelyn Bond, Julie Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Giessl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin A. Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan Lamont, Francois P. Bernier, Chandree L. Beaulieu, Paul Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, UK10K Consortium, University of Washington Center for Mendelian Genomics, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson
Nat Cell Biol.
Published in final edited form as: Nat Cell Biol. 2015 Aug; 17(8): 1074–1087. Published online 2015 Jul 13. doi: 10.1038/ncb3201
PMCID:
PMC4536769
20.
Sveva Romani, Barbara Illi, Roberta De Mori, Mauro Savino, Joseph G. Gleeson, Enza Maria Valente
Differentiation.
Published in final edited form as: Differentiation. 2014 Mar-Apr; 87(0): 134–146. Published online 2014 Mar 6. doi: 10.1016/j.diff.2014.02.005
PMCID:
PMC4355919

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