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Links from MedGen

Items: 6

1.
Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
Orphanet J Rare Dis. 2024; 19: 45. Published online 2024 Feb 7. doi: 10.1186/s13023-024-03067-3
PMCID:
PMC10848481
2.
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Clin Genet. 2022 Aug; 102(2): 98–109. Published online 2022 Jun 8. doi: 10.1111/cge.14165
PMCID:
PMC9546172
3.
Beáta Bessenyei, István Balogh, Attila Mokánszki, Anikó Ujfalusi, Rolph Pfundt, Katalin Szakszon
Cold Spring Harb Mol Case Stud. 2022 Jan; 8(1): a006124. doi: 10.1101/mcs.a006124
PMCID:
PMC8744498
4.
Mónica Burdeus-Olavarrieta, Antonia San José-Cáceres, Alicia García-Alcón, Javier González-Peñas, Patricia Hernández-Jusdado, Mara Parellada-Redondo
J Neurodev Disord. 2021; 13: 26. Published online 2021 Jul 10. doi: 10.1186/s11689-021-09370-5
PMCID:
PMC8272382
5.
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano‐Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
Am J Med Genet A. 2018 Jan; 176(1): 201–208. Published online 2017 Sep 27. doi: 10.1002/ajmg.a.38479
PMCID:
PMC5765401
6.
Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea
Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67
PMCID:
PMC3865402

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