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Items: 1 to 20 of 26

1.
Elsebet  Ostergaard, Ernst  Christensen, Elisabeth  Kristensen, Bodil  Mogensen, Morten  Duno, Eric A.  Shoubridge, Flemming  Wibrand
Am J Hum Genet. 2007 Aug; 81(2): 383–387. Published online 2007 Jun 4. doi: 10.1086/519222
PMCID:
PMC1950792
3.
Vincent Procaccio, Bénédicte Mousson, Réjane Beugnot, Hervé Duborjal, François Feillet, Guy Putet, Isabelle Pignot-Paintrand, Anne Lombès, René De Coo, Hubert Smeets, Joël Lunardi, Jean-Paul Issartel
J Clin Invest. 1999 Jul 1; 104(1): 83–92. doi: 10.1172/JCI6184
PMCID:
PMC408404
4.
Marisa W. Friederich, Alican J. Erdogan, Curtis R. Coughlin, II, Mihret T. Elos, Hua Jiang, Courtney P. O’Rourke, Mark A. Lovell, Eric Wartchow, Katherine Gowan, Kathryn C. Chatfield, Wallace S. Chick, Elaine B. Spector, Johan L.K. Van Hove, Jan Riemer
Hum Mol Genet. 2017 Feb 15; 26(4): 702–716. Published online 2016 Dec 30. doi: 10.1093/hmg/ddw431
PMCID:
PMC6251674
5.
Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr
Am J Hum Genet. 2018 Mar 1; 102(3): 460–467. Published online 2018 Feb 8. doi: 10.1016/j.ajhg.2018.01.008
PMCID:
PMC5985356
6.
Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch, Robert W Taylor
Eur J Hum Genet. 2015 Jul; 23(7): 935–939. Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.214
PMCID:
PMC4305338
7.
S Pitkanen, B H Robinson
J Clin Invest. 1996 Jul 15; 98(2): 345–351. doi: 10.1172/JCI118798
PMCID:
PMC507436
8.
Yi‐ming Chen, Wei Chen, Yue Xu, Chao‐sheng Lu, Mian‐mian Zhu, Rong‐yue Sun, Yihong Wang, Yuan Chen, Jiaming Shi, Dan Wang
Mol Genet Genomic Med. 2022 Sep; 10(9): e2010. Published online 2022 Jun 28. doi: 10.1002/mgg3.2010
PMCID:
PMC9482404
9.
Didem Demirbas, David J. Harris, Pamela H. Arn, Xiaoping Huang, Susan E. Waisbren, Irina Anselm, Jordan P. Lerner‐Ellis, Lee‐Jun Wong, Harvey L. Levy, Gerard T. Berry
JIMD Rep. 2019 Mar; 46(1): 63–69. Published online 2019 Mar 14. doi: 10.1002/jmd2.12018
PMCID:
PMC6498818
10.
Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson
Mol Genet Metab Rep. 2014; 1: 451–454. Published online 2014 Oct 14. doi: 10.1016/j.ymgmr.2014.09.007
PMCID:
PMC5121340
11.
Pratibha Singhi, Linda De Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini
JIMD Rep. 2013; 10: 107–111. Published online 2013 Feb 12. doi: 10.1007/8904_2012_211
PMCID:
PMC3755565
12.
Alexandra-Cristina Neagu, Magdalena Budișteanu, Dan-Cristian Gheorghe, Adela-Ioana Mocanu, Horia Mocanu
Medicina (Kaunas) 2022 Sep; 58(9): 1252. Published online 2022 Sep 9. doi: 10.3390/medicina58091252
PMCID:
PMC9501263
13.
Orna Staretz-Chacham, Ben Pode-Shakked, Eyal Kristal, Smadar Yaala Abraham, Keren Porper, Ohad Wormser, Ilan Shelef, Yair Anikster
Nutrients. 2021 Oct; 13(10): 3523. Published online 2021 Oct 7. doi: 10.3390/nu13103523
PMCID:
PMC8540285
14.
Olesia Ignatenko, Joni Nikkanen, Alexander Kononov, Nicola Zamboni, Gulayse Ince-Dunn, Anu Suomalainen
Life Sci Alliance. 2020 Sep; 3(9): e202000797. Published online 2020 Jul 31. doi: 10.26508/lsa.202000797
PMCID:
PMC7409372
15.
Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li
BMC Med Genet. 2018; 19: 202. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0689-3
PMCID:
PMC6247698
16.
Bhupendra Singh, Trenton R. Schoeb, Prachi Bajpai, Andrzej Slominski, Keshav K. Singh
Cell Death Dis. 2018 Jul; 9(7): 735. Published online 2018 Jul 20. doi: 10.1038/s41419-018-0765-9
PMCID:
PMC6053453
17.
Rachid Boutoual, Salvador Meseguer, Magda Villarroya, Elena Martín-Hernández, Mohammed Errami, Miguel A. Martín, Marta Casado, M.-Eugenia Armengod
Sci Rep. 2018; 8: 1163. Published online 2018 Jan 18. doi: 10.1038/s41598-018-19587-5
PMCID:
PMC5773609
18.
Olesia Ignatenko, Dmitri Chilov, Ilse Paetau, Elena de Miguel, Christopher B. Jackson, Gabrielle Capin, Anders Paetau, Mugen Terzioglu, Liliya Euro, Anu Suomalainen
Nat Commun. 2018; 9: 70. Published online 2018 Jan 4. doi: 10.1038/s41467-017-01859-9
PMCID:
PMC5754366
19.
Shane C. Quinonez, Steven M. Leber, Donna M. Martin, Jess G. Thoene, Jirair K. Bedoyan
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2013 Jan; 48(1): 67–72. doi: 10.1016/j.pediatrneurol.2012.09.013
PMCID:
PMC4535688
20.
Yufeng Qian, Aashiq H. Kachroo, Christopher M. Yellman, Edward M. Marcotte, Kenneth A. Johnson
J Biol Chem. 2014 Feb 28; 289(9): 5970–5985. Published online 2014 Jan 7. doi: 10.1074/jbc.M113.526418
PMCID:
PMC3937665

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