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Items: 1 to 20 of 31

1.
Kailai Nie, Junting Huang, Longqian Liu, Hongbin Lv, Danian Chen, Wei Fan
Front Genet. 2022; 13: 828120. Published online 2022 Mar 24. doi: 10.3389/fgene.2022.828120
PMCID:
PMC8989421
2.
Seth Andrew Climans, Seyed M. Mirsattari
Epilepsy Behav Case Rep. 2017; 7: 58–60. Published online 2017 Mar 18. doi: 10.1016/j.ebcr.2017.03.003
PMCID:
PMC5385583
3.
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz
Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95
PMCID:
PMC4326722
4.
U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, W Reardon
J Med Genet. 2006 Jun; 43(6): 541–544. Published online 2005 Nov 18. doi: 10.1136/jmg.2005.038505
PMCID:
PMC2564542
5.
Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres
J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y
PMCID:
PMC9550762
6.
Kristina Sibbin, Patrick Yap, Denis Nyaga, Raoul Heller, Stephen Evans, Kate Strachan, Salam Alburaiky, Han M. (Alex) Nguyen, Sylvie Hermann‐Le Denmat, Austen R. D. Ganley, Justin M. O'Sullivan, Frank H. Bloomfield
Am J Med Genet A. 2022 Apr; 188(4): 1299–1306. Published online 2021 Dec 31. doi: 10.1002/ajmg.a.62631
PMCID:
PMC9302691
7.
Matthias Baumann, Erin M. Beaver, María Palomares‐Bralo, Fernando Santos‐Simarro, Peter Holzer, Gundula Povysil, Thomas Müller, Taras Valovka, Andreas R. Janecke
Hum Mutat. 2020 Apr; 41(4): 753–758. Published online 2020 Jan 16. doi: 10.1002/humu.23970
PMCID:
PMC7155001
8.
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Nat Commun. 2018; 9: 4250. Published online 2018 Oct 12. doi: 10.1038/s41467-018-06713-0
PMCID:
PMC6185941
9.
Andrew Kemerley, Christina M Sloan-Heggen, Wanda L Pfeifer, Richard JH Smith, Arlene V Drack
Ophthalmic Genet.
Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 152–156. Published online 2016 Apr 20. doi: 10.3109/13816810.2016.1164196
PMCID:
PMC5722223
10.
N Di Donato, A Rump, R Koenig, V M Der Kaloustian, F Halal, K Sonntag, C Krause, K Hackmann, G Hahn, E Schrock, A Verloes
Eur J Hum Genet. 2014 Feb; 22(2): 179–183. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.130
PMCID:
PMC3895648
11.
Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin
Case Rep Genet. 2017; 2017: 9184265. Published online 2017 Apr 12. doi: 10.1155/2017/9184265
PMCID:
PMC5405358
12.
R Pallotta
J Med Genet. 1991 May; 28(5): 342–344. doi: 10.1136/jmg.28.5.342
PMCID:
PMC1016856
13.
M Baraitser, R M Winter
J Med Genet. 1988 Jan; 25(1): 41–43. doi: 10.1136/jmg.25.1.41
PMCID:
PMC1015421
14.
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
15.
Rui Li, Chaojie Wang, Zhenhua Zhang, Dongxiao Li, Lifeng Li, Ding Zhao, Zhaojie Xu
BMC Pediatr. 2023; 23: 168. Published online 2023 Apr 13. doi: 10.1186/s12887-023-03986-3
PMCID:
PMC10099690
16.
Céline B. Gerber, Anna Fliedner, Oliver Bartsch, Siren Berland, Malin Dewenter, Marte Haug, Ian Hayes, Purificacion Marin‐Reina, Paul R. Mark, Francisco Martinez‐Castellano, Isabelle Maystadt, Deniz Karadurmus, Katharina Steindl, Antje Wiesener, Markus Zweier, Heinrich Sticht, Christiane Zweier
Clin Genet. 2022 Sep; 102(3): 182–190. Published online 2022 Jun 14. doi: 10.1111/cge.14173
PMCID:
PMC9543785
17.
Xilian Zhang, Hanjiang Chen, Ying Song, Zhaoyuan Chen, Xuan Liu, Ping Rong, Rong Ma
Mol Genet Genomic Med. 2022 Sep; 10(9): e2009. Published online 2022 Jul 10. doi: 10.1002/mgg3.2009
PMCID:
PMC9482403
18.
Katarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Joanna Bernaciak, Marta Chojnacka, Magdalena Paczkowska, Magdalena Niemiec, Daria Dutkiewicz, Agata Kozar, Róża Magdziak, Wojciech Krawczyk, Grzegorz Pietras, Elżbieta Michalak, Teresa Klepacka, Ewa Obersztyn, Jerzy Bal, Beata Anna Nowakowska
J Assist Reprod Genet. 2022 Feb; 39(2): 357–367. Published online 2022 Jan 26. doi: 10.1007/s10815-022-02400-8
PMCID:
PMC8956756
19.
Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156
PMCID:
PMC8842511
20.
Nina Pan, Songchang Chen, Xiaoqiang Cai, Jianli Li, Tao Yu, He‐feng Huang, Jinglan Zhang, Chenming Xu
Mol Genet Genomic Med. 2021 Sep; 9(9): e1763. Published online 2021 Jul 22. doi: 10.1002/mgg3.1763
PMCID:
PMC8457699

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