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Items: 17

1.
Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried
Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159
PMCID:
PMC9007094
2.
Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277
PMCID:
PMC8391342
3.
Sophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, Andrea Lelli, Amrit Singh-Estivalet, Typhaine Dupont, Magali Niasme-Grare, Vincent Michel, Nicolas Wolff, Amel Bahloul, Yosra Bouyacoub, Didier Bouccara, Bernard Fraysse, Olivier Deguine, Lionel Collet, Hung Thai-Van, Eugen Ionescu, Jean-Louis Kemeny, Fabrice Giraudet, Jean-Pierre Lavieille, Arnaud Devèze, Anne-Laure Roudevitch-Pujol, Christophe Vincent, Christian Renard, Valérie Franco-Vidal, Claire Thibult-Apt, Vincent Darrouzet, Eric Bizaguet, Arnaud Coez, Hugues Aschard, Nicolas Michalski, Gaëlle M. Lefevre, Anne Aubois, Paul Avan, Crystel Bonnet, Christine Petit
Proc Natl Acad Sci U S A. 2020 Dec 8; 117(49): 31278–31289. Published online 2020 Nov 23. doi: 10.1073/pnas.2010782117
PMCID:
PMC7733833
4.
Joaquin E. Jimenez, Aida Nourbakhsh, Brett Colbert, Rahul Mittal, Denise Yan, Carlos L. Green, Eric Nisenbaum, George Liu, Nicole Bencie, Jason Rudman, Susan H. Blanton, Xue Zhong Liu
Gene.
Published in final edited form as: Gene. 2020 Jul 15; 747: 144677. Published online 2020 Apr 15. doi: 10.1016/j.gene.2020.144677
PMCID:
PMC7244213
5.
Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami
Genes (Basel) 2020 Mar; 11(3): 273. Published online 2020 Mar 4. doi: 10.3390/genes11030273
PMCID:
PMC7140843
6.
Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Kenji Ohyama, Koshi Otsuki, Satoshi Iwasaki, Shin Masuda, Chie Oshikawa, Yumi Ohta, Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Satoko Abe, Yuika Sakurai, Hirofumi Sakaguchi, Takashi Ishino, Natsumi Uehara, Shin-ichi Usami
Sci Rep. 2020; 10: 3662. Published online 2020 Feb 27. doi: 10.1038/s41598-020-60259-0
PMCID:
PMC7046659
7.
Kandai Nozu, Koichi Nakanishi, Yoshifusa Abe, Tomohiro Udagawa, Shinichi Okada, Takayuki Okamoto, Hiroshi Kaito, Katsuyoshi Kanemoto, Anna Kobayashi, Eriko Tanaka, Kazuki Tanaka, Taketsugu Hama, Rika Fujimaru, Saori Miwa, Tomohiko Yamamura, Natsusmi Yamamura, Tomoko Horinouchi, Shogo Minamikawa, Michio Nagata, Kazumoto Iijima
Clin Exp Nephrol. 2019; 23(2): 158–168. Published online 2018 Aug 20. doi: 10.1007/s10157-018-1629-4
PMCID:
PMC6510800
8.
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5
PMCID:
PMC6038346
9.
Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami
PLoS One. 2016; 11(12): e0166781. Published online 2016 Dec 2. doi: 10.1371/journal.pone.0166781
PMCID:
PMC5135052
10.
Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W. Seeley, Inès Mademan, Nicole M. McGrath, Noah C. Beadell, Julie Khoury, Maria-Victoria Botuyan, Georges Mer, Gregory A. Worrell, Kaori Hojo, Jessica DeLeon, Matilde Laura, Yo-Tsen Liu, Jan Senderek, Joachim Weis, Peter Van den Bergh, Shana L. Merrill, Mary M. Reilly, Henry Houlden, Murray Grossman, Steven S. Scherer, Peter De Jonghe, Peter J. Dyck, Christopher J. Klein
Brain. 2015 Apr; 138(4): 845–861. Published online 2015 Feb 10. doi: 10.1093/brain/awv010
PMCID:
PMC5014076
11.
Zhifu Sun, Yanhong Wu, Tamas Ordog, Saurabh Baheti, Jinfu Nie, Xiaohui Duan, Kaori Hojo, Jean-Pierre Kocher, Peter J Dyck, Christopher J Klein
Epigenetics. 2014 Aug 1; 9(8): 1184–1193. Published online 2014 Jul 7. doi: 10.4161/epi.29676
PMCID:
PMC4164503
12.
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea
Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46
PMCID:
PMC3526509
13.
Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, for the Italian Registry for MYH9-releated diseases
PLoS One. 2012; 7(4): e35986. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035986
PMCID:
PMC3338476
14.
A K Lalwani, J R Brister, J Fex, K M Grundfast, B Ploplis, T B San Agustin, E R Wilcox
Am J Hum Genet. 1995 Jan; 56(1): 75–83.
PMCID:
PMC1801294
15.
R Snoeckx, H Kremer, R Ensink, K Flothmann, A de Brouwer, R Smith, C Cremers, G Van Camp
J Med Genet. 2004 Jan; 41(1): 11–13. doi: 10.1136/jmg.2003.010702
PMCID:
PMC1757249
16.
S Kiechl, R Horvath, P Luoma, U Kiechl-Kohlendorf..., B Wallacher-Scholz, R Stucka, C Thaler, J Wanschitz, A Suomalainen, M Jaksch, J Willeit
J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8): 1125–1128. doi: 10.1136/jnnp.2003.025890
PMCID:
PMC1739155
17.
P. Kenna, F. Mansergh, S. Millington-Ward, A. Erven, R. Kumar-Singh, R. Brennan, G Farrar, P. Humphries
Br J Ophthalmol. 1997 Mar; 81(3): 207–213. doi: 10.1136/bjo.81.3.207
PMCID:
PMC1722127

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