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Items: 1 to 20 of 23

1.
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
2.
Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872
PMCID:
PMC9756141
3.
Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel
Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7
PMCID:
PMC9300526
4.
Ashish K. Maurya, Piali Sengupta
Curr Biol.
Published in final edited form as: Curr Biol. 2021 Dec 20; 31(24): 5642–5649.e5. Published online 2021 Nov 2. doi: 10.1016/j.cub.2021.10.027
PMCID:
PMC8692433
5.
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Mol Genet Genomic Med. 2021 Dec; 9(12): e1603. Published online 2021 Jan 24. doi: 10.1002/mgg3.1603
PMCID:
PMC8683696
6.
Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz
Genes (Basel) 2021 Nov; 12(11): 1648. Published online 2021 Oct 20. doi: 10.3390/genes12111648
PMCID:
PMC8622907
7.
Magdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G. M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann-Gagescu, John A. Sayer, Iain A. Drummond
J Cell Sci. 2021 Jul 15; 134(14): jcs258568. Published online 2021 Jul 22. doi: 10.1242/jcs.258568
PMCID:
PMC8325957
8.
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente, Nicola Vanacore, on behalf of the JS Italian Study Group
Neurology. 2020 Feb 25; 94(8): e797–e801. doi: 10.1212/WNL.0000000000008996
PMCID:
PMC7136056
9.
Dongheon Surl, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Junwon Lee, Suk Ho Byeon, Sueng-Han Han, Hyun Taek Lim, Jinu Han
Mol Vis. 2020; 26: 26–35. Published online 2020 Feb 24.
PMCID:
PMC7043639
10.
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand
PLoS One. 2020; 15(2): e0228622. Published online 2020 Feb 10. doi: 10.1371/journal.pone.0228622
PMCID:
PMC7010252
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.
Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Biomed Res Int. 2018; 2018: 4032543. Published online 2018 Nov 15. doi: 10.1155/2018/4032543
PMCID:
PMC6276521
13.
Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque
Nat Cell Biol.
Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273
PMCID:
PMC5580800
14.
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato
BMC Med Genet. 2017; 18: 37. Published online 2017 Mar 27. doi: 10.1186/s12881-017-0399-2
PMCID:
PMC5368915
15.
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
16.
Lubna H. Dekair, Hussein Kamel, Haitham O. El-Bashir
Neurosciences (Riyadh) 2014 Jul; 19(3): 233–235.
PMCID:
PMC4727659
17.
Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi, Yamna Kriouele, Maria Mansouri, Tania Attié-Bitach, Abdelaziz Sefiani, Lekbir Baala
J Med Case Rep. 2015; 9: 254. Published online 2015 Nov 5. doi: 10.1186/s13256-015-0732-3
PMCID:
PMC4635607
18.
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann
Eur J Hum Genet. 2015 May; 23(5): 616–620. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.160
PMCID:
PMC4402635
19.
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
PMCID:
PMC3913043
20.
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538

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