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Items: 1 to 20 of 28

1.
Kwadwo Apeadu Danso, Rosemary Sefakor Akuaku, Florence Naa Adoley Young, Samuel Agyei Wiafe
Pan Afr Med J. 2021; 40: 136. Published online 2021 Nov 4. doi: 10.11604/pamj.2021.40.136.31395
PMCID:
PMC8641627
2.
Umut Kalyoncu, Abdurrahman Tufan, Omer Karadag, Bunyamin Kisacik, Ali Akdogan, Meral Calguneri
J Natl Med Assoc. 2006 Oct; 98(10): 1692–1693.
PMCID:
PMC2569755
3.
W A Paznekas, M L Cunningham, T D Howard, B R Korf, M H Lipson, A W Grix, M Feingold, R Goldberg, Z Borochowitz, K Aleck, J Mulliken, M Yin, E W Jabs
Am J Hum Genet. 1998 Jun; 62(6): 1370–1380. doi: 10.1086/301855
PMCID:
PMC1377134
4.
H N Bass, F Weber-Parisi, R S Sparkes
J Med Genet. 1978 Oct; 15(5): 391–395. doi: 10.1136/jmg.15.5.391
PMCID:
PMC1013738
5.
V Soundaram, Ramesh Bhat Y,, Leslie E. Lewis, KM Girisha, P Jayashree, S Balasubramanian, R Pratyusha
Oman Med J. 2014 Sep; 29(5): e080. doi: 10.5001/omj.2014.105
PMCID:
PMC6451752
6.
Fulesh Kunwar, Vidhi Pandya, Sonal R. Bakshi
J Clin Diagn Res. 2016 Mar; 10(3): GD03–GD05. Published online 2016 Mar 1. doi: 10.7860/JCDR/2016/15659.7414
PMCID:
PMC4843283
7.
Philippe Debeer, Koen Devriendt, Luc De Smet, Thomy deRavel, Antonio Gonzalez-Meneses, Karl-Heinz Grzeschik, Jean-Pierre Fryns
J Child Orthop. 2007 Jul; 1(2): 143–150. Published online 2007 May 10. doi: 10.1007/s11832-007-0022-8
PMCID:
PMC2656707
8.
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
PMCID:
PMC10319691
9.
Binglang Xiong, Zixing Bai, Xuhan Cao, Duorui Nie, Cheng Zhang, Xudong Sun, Ziyan Guo, Jianmin Wen, Weidong Sun
Front Endocrinol (Lausanne) 2023; 14: 1115834. Published online 2023 Mar 8. doi: 10.3389/fendo.2023.1115834
PMCID:
PMC10030973
10.
Karen W. Gripp, Sarah F. Smithson, Ingrid J. Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E. H. Simon, Ellen van Binsbergen, Mary Beth P. Dinulos, Julie D. Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche
Eur J Hum Genet. 2021 Sep; 29(9): 1384–1395. Published online 2021 Feb 16. doi: 10.1038/s41431-021-00818-9
PMCID:
PMC8440610
11.
Shin-ya Katsuragi, Etsuko Hirose, Yoshifumi Arai, Yoshiro Otsuki, Shigeru Ohki, Hiroshi Kobayashi
Am J Case Rep. 2021; 22: e932450-1–e932450-7. Published online 2021 Aug 9. doi: 10.12659/AJCR.932450
PMCID:
PMC8363655
12.
Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver
Clin Dysmorphol.
Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347
PMCID:
PMC7933106
13.
Yuan Yang, Ya-li Zhou, Teng-teng Yao, Hui Pan, Ping Gu, Zhao-yang Wang
Br J Ophthalmol. 2021 Mar; 105(3): 341–347. Published online 2020 May 13. doi: 10.1136/bjophthalmol-2019-315265
PMCID:
PMC7907564
14.
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid V. Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F. Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A. Zarate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan H. Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau
Genet Med.
Published in final edited form as: Genet Med. 2020 Aug; 22(8): 1338–1347. Published online 2020 May 19. doi: 10.1038/s41436-020-0811-8
PMCID:
PMC7737399
15.
Kaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, Kazuki Yamazawa, Kazuhito Satou, Nobuyuki Murakami, Shinji Saitoh, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Clin Epigenetics. 2020; 12: 159. Published online 2020 Oct 22. doi: 10.1186/s13148-020-00949-8
PMCID:
PMC7583213
16.
Amanda L. Lumsden, Anwar Mulugeta, Ang Zhou, Elina Hyppönen
EBioMedicine. 2020 Sep; 59: 102954. Published online 2020 Aug 17. doi: 10.1016/j.ebiom.2020.102954
PMCID:
PMC7452404
17.
Liubov Arbeeva, Michelle Yau, Braxton D. Mitchell, Rebecca D. Jackson, Kathleen Ryan, Yvonne M. Golightly, Marian T. Hannan, Amanda Nelson, Joanne M. Jordan, Marc C. Hochberg
J Foot Ankle Res. 2020; 13: 11. Published online 2020 Mar 4. doi: 10.1186/s13047-020-0379-1
PMCID:
PMC7057609
18.
André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M. Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V. Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu, Francesco M. Marincola, Daniel MacArthur, Lotfi Chouchane
BMC Med Genet. 2016; 17: 42. Published online 2016 Jun 10. doi: 10.1186/s12881-016-0304-4
PMCID:
PMC4901505
19.
Yi-Hsiang Hsu, Youfang Liu, Marian T. Hannan, William Maixner, Shad B. Smith, Luda Diatchenko, Yvonne M. Golightly, Hylton B. Menz, Virginia B. Kraus, Michael Doherty, A.G. Wilson, Joanne M. Jordan
J Med Genet.
Published in final edited form as: J Med Genet. 2015 Nov; 52(11): 762–769. Published online 2015 Sep 2. doi: 10.1136/jmedgenet-2015-103142
PMCID:
PMC4864963
20.
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz
Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95
PMCID:
PMC4326722

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