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Items: 1 to 20 of 180

1.
Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani
Am J Hum Genet. 2010 Apr 9; 86(4): 639–649. doi: 10.1016/j.ajhg.2010.03.002
PMCID:
PMC2850437
2.
Alessia Indrieri, Brunella Franco
Genes (Basel) 2021 Feb; 12(2): 263. Published online 2021 Feb 11. doi: 10.3390/genes12020263
PMCID:
PMC7918533
3.
Paule Bénit, Alice Pelhaître, Elise Saunier, Sylvie Bortoli, Assetou Coulibaly, Malgorzata Rak, Manuel Schiff, Guido Kroemer, Massimo Zeviani, Pierre Rustin
EBioMedicine. 2017 Mar; 17: 75–87. Published online 2017 Feb 16. doi: 10.1016/j.ebiom.2017.02.013
PMCID:
PMC5360583
4.
Carlo Rinaldi, Christopher Grunseich, Irina F. Sevrioukova, Alice Schindler, Iren Horkayne-Szakaly, Costanza Lamperti, Guida Landouré, Marina L. Kennerson, Barrington G. Burnett, Carsten Bönnemann, Leslie G. Biesecker, Daniele Ghezzi, Massimo Zeviani, Kenneth H. Fischbeck
Am J Hum Genet. 2012 Dec 7; 91(6): 1095–1102. doi: 10.1016/j.ajhg.2012.10.008
PMCID:
PMC3516602
5.
Josef Finsterer, Fulvio Scorza
Biomed Rep. 2017 May; 6(5): 487–494. Published online 2017 Apr 12. doi: 10.3892/br.2017.892
PMCID:
PMC5431253
6.
Declan R. Morris, Todd J. McWhorter, Wayne S. J. Boardman, Gregory Simpson, Jeanette Wentzel, Jannie Coetzee, Yoshan Moodley
PeerJ. 2024; 12: e17018. Published online 2024 Apr 11. doi: 10.7717/peerj.17018
PMCID:
PMC11016244
7.
Jian Ma, Lei Li, Bohan Ma, Tianjie Liu, Zixi Wang, Qi Ye, Yunhua Peng, Bin Wang, Yule Chen, Shan Xu, Ke Wang, Fabin Dang, Xinyang Wang, Zixuan Zeng, Yanlin Jian, Zhihua Ren, Yizeng Fan, Xudong Li, Jing Liu, Yang Gao, Wenyi Wei, Lei Li
Nat Commun. 2024; 15: 1871. Published online 2024 Feb 29. doi: 10.1038/s41467-024-45796-w
PMCID:
PMC10904810
8.
Francisco del Caño-Ochoa, Bobby G. Ng, Antonio Rubio-del-Campo, Sonal Mahajan, Matthew P. Wilson, Marçal Vilar, Daisy Rymen, Paula Sánchez-Pintos, Janna Kenny, Myriam Ley Martos, Teresa Campos, Saskia B. Wortmann, Hudson H. Freeze, Santiago Ramón-Maiques
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2023 Nov; 46(6): 1170–1185. Published online 2023 Sep 11. doi: 10.1002/jimd.12667
PMCID:
PMC10838372
9.
Nuo Yang, Limin Chen, Yanfeng Zhang, Xuemei Wu, Yunpeng Hao, Fan Yang, Zuozhen Yang, Jianmin Liang
BMC Pediatr. 2024; 24: 96. Published online 2024 Feb 3. doi: 10.1186/s12887-024-04553-0
PMCID:
PMC10837881
10.
张 詹明, 童 凡, 陈 迟, 张 婷, 钱 古柃, 杨 昕, 黄 新文, 杨 茹莱, 赵 正言
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 721–726. Chinese. Published online 2023 Nov 14. doi: 10.3724/zdxbyxb-2023-0359
PMCID:
PMC10764181
11.
Edwin Kniha, Vít Dvořák, Stephan Koblmüller, Jorian Prudhomme, Vladimir Ivović, Ina Hoxha, Sandra Oerther, Anna Heitmann, Renke Lühken, Anne-Laure Bañuls, Denis Sereno, Alice Michelutti, Federica Toniolo, Pedro M. Alarcón-Elbal, Daniel Bravo-Barriga, Mikel A. González, Javier Lucientes, Vito Colella, Domenico Otranto, Marcos Antônio Bezerra-Santos, Gernot Kunz, Adelheid G. Obwaller, Jerome Depaquit, Amer Alić, Ozge Erisoz Kasap, Bulent Alten, Jasmin Omeragic, Petr Volf, Julia Walochnik, Viktor Sebestyén, Attila J. Trájer
Commun Biol. 2023; 6: 1244. Published online 2023 Dec 8. doi: 10.1038/s42003-023-05616-1
PMCID:
PMC10709326
12.
Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B. Gomes, Gráinne S. Gorman, Oliver M. Russell, Helen A.L. Tuppen, Elise Duchesne, Amy E. Vincent
J Neuromuscul Dis. 2023; 10(6): 1111–1126. Prepublished online 2023 Aug 25. Published online 2023 Nov 7. doi: 10.3233/JND-230099
PMCID:
PMC10657683
13.
Lilli Ikonen, Sini Pirnes-Karhu, Swagat Pradhan, Howard T Jacobs, Marten Szibor, Anu Suomalainen
Life Sci Alliance. 2023 Nov; 6(11): e202302036. Published online 2023 Sep 1. doi: 10.26508/lsa.202302036
PMCID:
PMC10474302
14.
Naoko Nozawa, Marie Noguchi, Kanako Shinno, Taro Saito, Akiko Asada, Takuya Ishii, Kiwamu Takahashi, Masahiro Ishizuka, Kanae Ando
Hum Mol Genet. 2023 Aug 15; 32(16): 2611–2622. Published online 2023 Jun 26. doi: 10.1093/hmg/ddad092
PMCID:
PMC10407699
15.
Jingping Dong, Hengsong Shi, Yu Wu, Lina Yang, Feng Zhu, Zhaolin Ji
BMC Microbiol. 2023; 23: 211. Published online 2023 Aug 7. doi: 10.1186/s12866-023-02958-y
PMCID:
PMC10405372
16.
Sara Cuevas-Ocaña, Jin Ye Yang, Magomet Aushev, George Schlossmacher, Christine E. Bear, Nicholas R. F. Hannan, Neil D. Perkins, Janet Rossant, Amy P. Wong, Michael A. Gray
Int J Mol Sci. 2023 Jun; 24(12): 10266. Published online 2023 Jun 17. doi: 10.3390/ijms241210266
PMCID:
PMC10299534
17.
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang
Mol Genet Genomic Med. 2023 Jun; 11(6): e2152. Published online 2023 Feb 14. doi: 10.1002/mgg3.2152
PMCID:
PMC10265071
18.
Ru-Lai Yang, Gu-Ling Qian, Ding-Wen Wu, Jing-Kun Miao, Xue Yang, Ben-Qing Wu, Ya-Qiong Yan, Hai-Bo Li, Xin-Mei Mao, Jun He, Huan Shen, Hui Zou, Shu-Yuan Xue, Xiao-Ze Li, Ting-Ting Niu, Rui Xiao, Zheng-Yan Zhao
World J Pediatr. 2023; 19(7): 663–673. Published online 2023 Feb 27. doi: 10.1007/s12519-022-00670-x
PMCID:
PMC10258179
19.
Christian Bergamini, Ilaria Leoni, Nicola Rizzardi, Mattia Melli, Giuseppe Galvani, Camelia Alexandra Coada, Catia Giovannini, Elisa Monti, Irene Liparulo, Francesca Valenti, Manuela Ferracin, Matteo Ravaioli, Matteo Cescon, Francesco Vasuri, Fabio Piscaglia, Massimo Negrini, Claudio Stefanelli, Romana Fato, Laura Gramantieri, Francesca Fornari
J Exp Clin Cancer Res. 2023; 42: 145. Published online 2023 Jun 10. doi: 10.1186/s13046-023-02718-w
PMCID:
PMC10257313
20.
Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli
Int J Mol Sci. 2023 May; 24(10): 9108. Published online 2023 May 22. doi: 10.3390/ijms24109108
PMCID:
PMC10218839

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