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Items: 1 to 20 of 71

1.
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma
Mol Genet Genomic Med. 2024 Apr; 12(4): e2426. Published online 2024 Apr 1. doi: 10.1002/mgg3.2426
PMCID:
PMC10985408
2.
Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li
Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306
PMCID:
PMC10767598
3.
Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar
Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322
PMCID:
PMC10591249
4.
Su Hyun Yoon, Younghwa Kong
Medicine (Baltimore) 2021 Feb 12; 100(6): e24301. Published online 2021 Feb 12. doi: 10.1097/MD.0000000000024301
PMCID:
PMC10545169
5.
Elizabeth M Paronett, Corey A Bryan, Megan E Maynard, Julia A Goroff, Daniel W Meechan, Anthony-Samuel LaMantia, Thomas M Maynard
Hum Mol Genet. 2023 Jun 15; 32(12): 1959–1974. Published online 2023 Feb 15. doi: 10.1093/hmg/ddad030
PMCID:
PMC10244217
6.
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
7.
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407
PMCID:
PMC9162882
8.
Jiacheng Hu, Mingming Xu, Xiaobo Zhu, Yu Zhang
Genes (Basel) 2022 May; 13(5): 813. Published online 2022 May 2. doi: 10.3390/genes13050813
PMCID:
PMC9140611
9.
Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza
Genes (Basel) 2021 Dec; 12(12): 1957. Published online 2021 Dec 7. doi: 10.3390/genes12121957
PMCID:
PMC8701147
10.
Ranim Mahmoud, Anna Leonenko, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis
Clin Genet.
Published in final edited form as: Clin Genet. 2021 Jul; 100(1): 29–39. Published online 2021 Mar 13. doi: 10.1111/cge.13947
PMCID:
PMC8568051
11.
Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu
Mol Genet Genomic Med. 2021 Feb; 9(2): e1573. Published online 2020 Dec 17. doi: 10.1002/mgg3.1573
PMCID:
PMC8077114
12.
Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J.G. Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche
Am J Hum Genet. 2020 Dec 3; 107(6): 1044–1061. Published online 2020 Nov 6. doi: 10.1016/j.ajhg.2020.10.007
PMCID:
PMC7820632
13.
Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
BMC Med Genet. 2020; 21: 214. Published online 2020 Oct 31. doi: 10.1186/s12881-020-01154-3
PMCID:
PMC7599977
14.
Daniela Melis, Daniel Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica Gerkes, Marrit M. Hitzert, Hanne B. Hove, Sandra Jansen, Petr E. Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. Hennekam
Clin Genet. 2020 Jun; 97(6): 890–901. Published online 2020 Apr 20. doi: 10.1111/cge.13749
PMCID:
PMC7384157
15.
Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe, Martin Chevarin, Yannis Duffourd, Elodie Gautier, Arnold Munnich, Marlène Rio, Sophie Rondeau, Salima El Chehadeh, Élise Schaefer, Bénédicte Gérard, Sonia Bouquillon, Catherine Vincent Delorme, Christine Francannet, Fanny Laffargue, Laetitia Gouas, Bertrand Isidor, Marie Vincent, Sophie Blesson, Fabienne Giuliano, Olivier Pichon, Cédric Le Caignec, Hubert Journel, Laurence Perrin-Sabourin, Jennifer Fabre-Teste, Dominique Martin, Gaelle Vieville, Klaus Dieterich, Didier Lacombe, Anne-Sophie Denommé-Pichon, Christel Thauvin-Robinet, Laurence Faivre
Eur J Hum Genet. 2020 Aug; 28(8): 1044–1055. Published online 2020 Feb 18. doi: 10.1038/s41431-020-0582-3
PMCID:
PMC7382504
16.
Dustin Baldridge, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, Patricia I. Dickson, F. Sessions Cole, Vandana Shashi, Dorothy K. Grange
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1053–1065. Published online 2020 Feb 21. doi: 10.1002/ajmg.a.61518
PMCID:
PMC7295006
17.
Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
Genes (Basel) 2020 Apr; 11(4): 420. Published online 2020 Apr 14. doi: 10.3390/genes11040420
PMCID:
PMC7231014
18.
Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, Heather C. Mefford
Am J Hum Genet. 2020 May 7; 106(5): 623–631. Published online 2020 Apr 9. doi: 10.1016/j.ajhg.2020.03.009
PMCID:
PMC7212259
19.
Lynnea Myers, Moira Blyth, Kamran Moradkhani, Dubravka Hranilović, Sam Polesie, Johan Isaksson, Ann Nordgren, Maja Bucan, Marie Vincent, Sven Bölte, Britt‐Marie Anderlid, Kristiina Tammimies
Mol Genet Genomic Med. 2020 Jan; 8(1): e1013. Published online 2019 Nov 15. doi: 10.1002/mgg3.1013
PMCID:
PMC6978403
20.
Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200
PMCID:
PMC6672026

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