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Links from MedGen

Items: 11

1.
Cindy X. Cai, Michelle Go, Michael P. Kelly, Sandra Holgado, Cynthia A. Toth
Retin Cases Brief Rep.
Published in final edited form as: Retin Cases Brief Rep. 2022 May 1; 16(3): 270–274. Published online 2020 Mar 17. doi: 10.1097/ICB.0000000000000991
PMCID:
PMC7494654
2.
Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente
Eur J Hum Genet. 2016 Aug; 24(9): 1262–1267. Published online 2016 Mar 2. doi: 10.1038/ejhg.2016.19
PMCID:
PMC4913877
3.
Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, Francois P. Bernier, Kym M. Boycott, Jacek Majewski, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty
Am J Hum Genet. 2014 Aug 7; 95(2): 227–234. doi: 10.1016/j.ajhg.2014.07.007
PMCID:
PMC4129402
4.
Laura M. Huisman, Thierry A. G. M. Huisman
Children (Basel) 2023 Oct; 10(10): 1668. Published online 2023 Oct 9. doi: 10.3390/children10101668
PMCID:
PMC10605885
5.
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5
PMCID:
PMC10155342
6.
Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Genomics England Research Consortium, Eugen Boltshauser, John A Sayer
Brain Commun. 2021; 3(3): fcab163. Published online 2021 Jul 16. doi: 10.1093/braincomms/fcab163
PMCID:
PMC8374969
7.
Panfeng Wang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Yuxi Long, Mengchu Liu, Yongyu Li, Jun Li, Yan Xu, Qingjiong Zhang
Front Cell Dev Biol. 2021; 9: 644947. Published online 2021 Jun 25. doi: 10.3389/fcell.2021.644947
PMCID:
PMC8267009
8.
Min Chen, Min Zhang, Yeqing Qian, Yanmei Yang, Yixi Sun, Bei Liu, Liya Wang, Minyue Dong
NPJ Genom Med. 2020; 5: 31. Published online 2020 Aug 12. doi: 10.1038/s41525-020-0138-z
PMCID:
PMC7538933
9.
Muhsin Elmas, Basak Gogus, Mustafa Solak
Clin Med Insights Case Rep. 2020; 13: 1179547620948666. Published online 2020 Aug 18. doi: 10.1177/1179547620948666
PMCID:
PMC7440728
10.
Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P. Toelle, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2016; 11: 104. Published online 2016 Jul 29. doi: 10.1186/s13023-016-0486-z
PMCID:
PMC4966602
11.
Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj
J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034
PMCID:
PMC10032320

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