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Items: 1 to 20 of 647

1.
Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu
Lipids Health Dis. 2017; 16: 185. Published online 2017 Sep 26. doi: 10.1186/s12944-017-0576-5
PMCID:
PMC5615764
2.
Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8
PMCID:
PMC3970109
3.
Sema Şanal Baş, Gonca Kılıç Yıldırım
Sudan J Paediatr. 2020; 20(1): 58–61. doi: 10.24911/SJP.106-1580816331
PMCID:
PMC7282425
4.
Laurence Carmant, Aspasia Karalis, Françoise Rypens, Luc Oligny, Sandrine Wavrant, Anne‐Laure Lapeyraque, Elisabeth Codsi
Clin Case Rep. 2021 Mar; 9(3): 1101–1103. Published online 2021 Jan 12. doi: 10.1002/ccr3.3663
PMCID:
PMC7981664
5.
I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin, E. Neilan, C. Phornphutkul, D. A. Sweetser, T. H. Zytkovicz, R. B. Eaton
JIMD Rep. 2014; 13: 1–14. Published online 2013 Nov 5. doi: 10.1007/8904_2013_262
PMCID:
PMC4110341
6.
Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki, Haruo Fujita, Koichiro Nishino
JIMD Rep. 2014; 13: 43–51. Published online 2013 Oct 20. doi: 10.1007/8904_2013_268
PMCID:
PMC4110340
7.
Yosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, Chikahiko Numakura, Kiyoshi Hayasaka
Hum Genome Var. 2015; 1: 15016. Published online 2015 Jun 18. doi: 10.1038/hgv.2015.16
PMCID:
PMC4785565
8.
Peter Augustin, Marina Toplak, Katharina Fuchs, Eva Christine Gerstmann, Ruth Prassl, Andreas Winkler, Peter Macheroux
J Biol Chem. 2018 Feb 23; 293(8): 2829–2840. Published online 2018 Jan 4. doi: 10.1074/jbc.RA117.000846
PMCID:
PMC5827430
9.
Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli
Respir Med Case Rep. 2015; 15: 92–94. Published online 2015 May 11. doi: 10.1016/j.rmcr.2015.02.009
PMCID:
PMC4501457
10.
Yuanquan Song, Mary A. Selak, Corey T. Watson, Christopher Coutts, Paul C. Scherer, Jessica A. Panzer, Sarah Gibbs, Marion O. Scott, Gregory Willer, Ronald G. Gregg, Declan W. Ali, Michael J. Bennett, Rita J. Balice-Gordon
PLoS One. 2009; 4(12): e8329. Published online 2009 Dec 17. doi: 10.1371/journal.pone.0008329
PMCID:
PMC2791221
11.
W-C. Liang, I. Nishino
Acta Myol. 2010 Oct; 29(2): 351–356.
PMCID:
PMC3040591
12.
Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R. Desviat, Pawel Swietach
Front Cardiovasc Med. 2020; 7: 617451. Published online 2020 Dec 22. doi: 10.3389/fcvm.2020.617451
PMCID:
PMC7782273
13.
Sarah C Grünert
Orphanet J Rare Dis. 2014; 9: 117. Published online 2014 Jul 22. doi: 10.1186/s13023-014-0117-5
PMCID:
PMC4222585
16.
B Dubiel, C Dabrowski, R Wetts, K Tanaka
J Clin Invest. 1983 Nov; 72(5): 1543–1552. doi: 10.1172/JCI111113
PMCID:
PMC370442
17.
Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang
BMC Med Genet. 2020; 21: 98. Published online 2020 May 11. doi: 10.1186/s12881-020-00995-2
PMCID:
PMC7212588
18.
Seok-Hyung Kim, Sarah A. Scott, Michael J. Bennett, Robert P. Carson, Joshua Fessel, H. Alex Brown, Kevin C. Ess
PLoS Genet. 2013 Jun; 9(6): e1003563. Published online 2013 Jun 13. doi: 10.1371/journal.pgen.1003563
PMCID:
PMC3681725
19.
Daniele Grioni, Andrea Landi, Serena Gasperini, Andrea Trezza, Leonardo Fiori, Miriam Rigoldi, Rossella Parini, Erik Pietro Sganzerla
Child Neurol Open. 2015 Oct-Dec; 2(4): 2329048X15612432. Published online 2015 Oct 25. doi: 10.1177/2329048X15612432
PMCID:
PMC5417020
20.
Xueying Zhang, Yao-Lin Zhang, Guihua Qiu, Lili Pian, Lu Guo, Huanling Cao, Jian Liu, Yawei Zhao, Xin Li, Zhe Xu, Xiaofeng Huang, Jingru Huang, Jie Dong, Beifen Shen, Hong-Xia Wang, Xiaomin Ying, Weiping J. Zhang, Xuetao Cao, Jiyan Zhang
Proc Natl Acad Sci U S A. 2020 Feb 4; 117(5): 2473–2483. Published online 2020 Jan 15. doi: 10.1073/pnas.1910765117
PMCID:
PMC7007566

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