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Links from MedGen

Items: 5

1.
Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway, Genomics England Research Consortium
J Med Genet. 2022 Aug; 59(8): 737–747. Published online 2021 Oct 29. doi: 10.1136/jmedgenet-2021-108065
PMCID:
PMC9340050
2.
Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu
Hum Genomics. 2020; 14: 26. Published online 2020 Jun 29. doi: 10.1186/s40246-020-00274-4
PMCID:
PMC7325267
3.
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente, Nicola Vanacore, on behalf of the JS Italian Study Group
Neurology. 2020 Feb 25; 94(8): e797–e801. doi: 10.1212/WNL.0000000000008996
PMCID:
PMC7136056
4.
Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne-Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean-Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet-Bianco, Jean-François Soucy, Anne-Marie Laberge, Catalina Maftei, Care4Rare Canada Consortium, Kym Boycott, Bernard Brais, Renée-Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit Shalev, Jacques L. Michaud
Am J Hum Genet. 2015 Nov 5; 97(5): 744–753. Published online 2015 Oct 17. doi: 10.1016/j.ajhg.2015.09.009
PMCID:
PMC4667103
5.
Allen Day, Jun Dong, Vincent A. Funari, Bret Harry, Samuel P. Strom, Dan H. Cohn, Stanley F. Nelson
PLoS One. 2009; 4(12): e8491. Published online 2009 Dec 31. doi: 10.1371/journal.pone.0008491
PMCID:
PMC2797297

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