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Items: 10

1.
Atsushi Goto, Shingo Komura, Koki Kato, Rie Maki, Akihiro Hirakawa, Hiroyuki Tomita, Akihiro Hirata, Yasuhiro Yamada, Haruhiko Akiyama
Commun Biol. 2023; 6: 1173. Published online 2023 Nov 18. doi: 10.1038/s42003-023-05558-8
PMCID:
PMC10657354
2.
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho
J Med Genet. 2022 Sep; 59(9): 865–877. Published online 2021 Nov 23. doi: 10.1136/jmedgenet-2020-107623
PMCID:
PMC9411915
3.
Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, Kenjiro Kosaki, Tadashi Yokoi, Tomoyo Yoshida, Kaoru Tomita, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata, Tohru Ishitani, Yoshihiro Hotta, Noriyuki Azuma
J Hum Genet. 2021; 66(10): 1021–1027. Published online 2021 Feb 27. doi: 10.1038/s10038-021-00909-x
PMCID:
PMC8472910
4.
Sang-Hoon Yoon, Jiyun Cha, Eunji Lee, Byeongjo Kwon, Kyongha Cho, Sungha Kim
Medicine (Baltimore) 2021 Mar 12; 100(10): e24988. Published online 2021 Mar 12. doi: 10.1097/MD.0000000000024988
PMCID:
PMC7969265
5.
Xuefei Chen, Xiaolu Ma, Chaochun Zou
Medicine (Baltimore) 2020 Jul 17; 99(29): e20574. Published online 2020 Jul 17. doi: 10.1097/MD.0000000000020574
PMCID:
PMC7373511
6.
Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori
Genes (Basel) 2019 Dec; 10(12): 967. Published online 2019 Nov 25. doi: 10.3390/genes10120967
PMCID:
PMC6947605
7.
Raghuveer C. Muppavarapu, Michael J. Waters, Matthew I. Leibman, Mark R. Belsky, David E. Ruchelsman
Hand (N Y) 2015 Jun; 10(2): 260–265. Published online 2014 Dec 2. doi: 10.1007/s11552-014-9704-0
PMCID:
PMC4447679
8.
Ashish Gupta, Anusha Uttarilli, Ashwin Dalal, Katta M Girisha
BMJ Case Rep. 2015; 2015: bcr2015209305. Published online 2015 May 14. doi: 10.1136/bcr-2015-209305
PMCID:
PMC4434300
9.
Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Gai McMichael, Hao Hu, Melanie Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kress, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena Falk, Dima El-Khechen, Luis F. Escobar, Raoul Hennekam, Peter Wieacker, Christoph Hübner, Hans-Hilger Ropers, Jozef Gecz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer
Am J Hum Genet. 2013 May 2; 92(5): 681–695. doi: 10.1016/j.ajhg.2013.03.021
PMCID:
PMC3644645
10.
Ergül Tunçbilek, Yasemin Alanay
Orphanet J Rare Dis. 2006; 1: 20. Published online 2006 Jun 1. doi: 10.1186/1750-1172-1-20
PMCID:
PMC1524931

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