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Items: 1 to 20 of 152

1.
Hyun Nam Choi, Sin Rak Kim, Yea Sik Han
Arch Plast Surg. 2013 Jan; 40(1): 62–65. Published online 2013 Jan 14. doi: 10.5999/aps.2013.40.1.62
PMCID:
PMC3556536
2.
Akiko Sakuma, Shoko Nishiyama, Kyohei Yasuno, Tamio Ohmuro, Junichi Kamiie, Kinji Shirota
J Toxicol Pathol. 2010 Dec; 23(4): 265–269. Published online 2010 Dec 16. doi: 10.1293/tox.23.265
PMCID:
PMC3234631
3.
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223
PMCID:
PMC10579516
4.
Ricardo Luis Sousa Santana, Elaine Lopes de Carvalho, José Ledamir Sindeaux, Neto, Michele Velasco Oliveira da Silva, Raul Henrique da Silva Pinheiro, Evonnildo Costa Gonçalves, Elane Guerreiro Giese
Rev Bras Parasitol Vet. 2023; 32(2): e003723. Published online 2023 Jun 30. doi: 10.1590/S1984-29612023039
PMCID:
PMC10321722
5.
Qian Ding, Jin Yue, Ling-fa Xue, Yao-xiang Xu, Wen-lin Xiao
Eur J Med Res. 2022; 27: 126. Published online 2022 Jul 20. doi: 10.1186/s40001-022-00757-1
PMCID:
PMC9301840
6.
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049
PMCID:
PMC9235023
7.
Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang
Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740
PMCID:
PMC9140414
8.
Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon
Genes (Basel) 2021 Oct; 12(10): 1583. Published online 2021 Oct 7. doi: 10.3390/genes12101583
PMCID:
PMC8535745
9.
Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol
Mol Genet Genomic Med. 2020 Aug; 8(8): e1277. Published online 2020 Jun 14. doi: 10.1002/mgg3.1277
PMCID:
PMC7434744
10.
Zili Zhang, Zhen Yao, Ling Wang, Hai Ding, Jiangjuan Shao, Anping Chen, Feng Zhang, Shizhong Zheng
Autophagy. 2018; 14(12): 2083–2103. Published online 2018 Aug 21. doi: 10.1080/15548627.2018.1503146
PMCID:
PMC6984765
11.
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, CAUSES Study, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Deciphering Developmental Disorders study, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau
Am J Hum Genet. 2019 Mar 7; 104(3): 530–541. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.010
PMCID:
PMC6407527
12.
Joshua L. Everson, Dustin M. Fink, Hannah M. Chung, Miranda R. Sun, Robert J. Lipinski
BMC Genomics. 2018; 19: 497. Published online 2018 Jun 27. doi: 10.1186/s12864-018-4885-5
PMCID:
PMC6020285
13.
Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BMC Pediatr. 2018; 18: 126. Published online 2018 Apr 4. doi: 10.1186/s12887-018-1108-9
PMCID:
PMC5883641
14.
Veronika Živicová, Lukáš Lacina, Rosana Mateu, Karel Smetana, Jr, Radana Kavková, Eliška Drobná Krejčí, Miloš Grim, Alena Kvasilová, Jiří Borský, Hynek Strnad, Miluše Hradilová, Jana Šáchová, Michal Kolář, Barbora Dvořánková
Int J Mol Med. 2017 Nov; 40(5): 1323–1334. Published online 2017 Sep 7. doi: 10.3892/ijmm.2017.3128
PMCID:
PMC5627884
15.
Ye Tao, Chunling Xu, Chunfen Yuan, Honghong Wang, Borong Lin, Kan Zhuo, Jinling Liao
PLoS One. 2017; 12(8): e0182627. Published online 2017 Aug 30. doi: 10.1371/journal.pone.0182627
PMCID:
PMC5576651
16.
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
J Med Genet. 2016 Sep; 53(9): 634–641. Published online 2016 Apr 18. doi: 10.1136/jmedgenet-2015-103576
PMCID:
PMC5013090
17.
Felipe Ruiz-Botero, Harry Pachajoa
J Med Case Rep. 2016; 10: 204. Published online 2016 Jul 27. doi: 10.1186/s13256-016-0988-2
PMCID:
PMC4962380
18.
Ke JIANG, Kai WANG, Fang YAN, Jiang XIE, Da-Hu ZOU, Wu-Lin LIU, Jian-Ping JIANG, Cheng LI, Jing CHE
Dongwuxue Yanjiu. 2016 Jan 18; 37(1): 31–40. Published online 2016 Jan 18. doi: 10.13918/j.issn.2095-8137.2016.1.31
PMCID:
PMC4834733
19.
YIPING LI, FENG LIU, FENGAN DING, PINGSHENG CHEN, MENG TANG
Mol Med Rep. 2015 Sep; 12(3): 3453–3461. Published online 2015 May 25. doi: 10.3892/mmr.2015.3842
PMCID:
PMC4526069
20.
Cyril Amouroux, Marie Vincent, Patricia Blanchet, Jacques Puechberty, Anouck Schneider, Anne Marie Chaze, Manon Girard, Magali Tournaire, Christian Jorgensen, Denis Morin, Pierre Sarda, Geneviève Lefort, David Geneviève
Eur J Hum Genet. 2012 May; 20(5): 580–583. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.243
PMCID:
PMC3330221

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