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Items: 1 to 20 of 28

1.
Ontario Health (Quality)
Ont Health Technol Assess Ser. 2023; 23(4): 1–398. Published online 2023 Aug 10.
PMCID:
PMC10453298
2.
Sylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska, Milena Poryszewska, Joanna Kosińska, Piotr Stawiński, Rafał Płoski, Jerzy Bal
Genes (Basel) 2021 Dec; 12(12): 1911. Published online 2021 Nov 28. doi: 10.3390/genes12121911
PMCID:
PMC8701106
3.
Snir Boniel, Krystyna Szymańska, Robert Śmigiel, Krzysztof Szczałuba
Genes (Basel) 2021 Apr; 12(4): 468. Published online 2021 Mar 25. doi: 10.3390/genes12040468
PMCID:
PMC8064399
4.
Olivera Casar-Borota, Henning Bünsow Boldt, Britt Edén Engström, Marianne Skovsager Andersen, Bertrand Baussart, Daniel Bengtsson, Katarina Berinder, Bertil Ekman, Ulla Feldt-Rasmussen, Charlotte Höybye, Jens Otto L Jørgensen, Anders Jensen Kolnes, Márta Korbonits, Åse Krogh Rasmussen, John R Lindsay, Paul Benjamin Loughrey, Dominique Maiter, Emilija Manojlovic-Gacic, Jens Pahnke, Pietro Luigi Poliani, Vera Popovic, Oskar Ragnarsson, Camilla Schalin-Jäntti, David Scheie, Miklós Tóth, Chiara Villa, Martin Wirenfeldt, Jacek Kunicki, Pia Burman
J Clin Endocrinol Metab. 2021 Apr; 106(4): e1183–e1194. Published online 2020 Oct 27. doi: 10.1210/clinem/dgaa749
PMCID:
PMC7993578
5.
Thien A. Nguyen, Kunwei Wu, Saurabh Pandey, Alexander W. Lehr, Yan Li, Michael A. Bemben, John D. Badger, II, Julie L. Lauzon, Tongguang Wang, Kareem A. Zaghloul, Audrey Thurm, Mahim Jain, Wei Lu, Katherine W. Roche
Neuron.
Published in final edited form as: Neuron. 2020 Jun 3; 106(5): 759–768.e7. Published online 2020 Apr 2. doi: 10.1016/j.neuron.2020.03.008
PMCID:
PMC7491604
6.
Meng-Han Tsai, Alison M. Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E. Porter, Laura A. Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, University of Washington Center for Mendelian Genomics, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda M. Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin-Wu Tsai, Heather C. Mefford
Neuron.
Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 237–245.e8. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.027
PMCID:
PMC7357395
7.
Adebola Enikanolaiye, Julie Ruston, Rong Zeng, Christine Taylor, Marijke Schrock, Christie M. Buchovecky, Jay Shendure, Elif Acar, Monica J. Justice
Genome Res. 2020 Apr; 30(4): 540–552. doi: 10.1101/gr.258400.119
PMCID:
PMC7197480
8.
Hongwei Cheng, Chunyun Du, Yihong Zhang, Andrew F. James, Christopher E. Dempsey, Ana P. Abdala, Jules C. Hancox
J Mol Cell Cardiol. 2019 Oct; 135: 22–30. doi: 10.1016/j.yjmcc.2019.07.012
PMCID:
PMC6856717
9.
Iga Jancewicz, Janusz A. Siedlecki, Tomasz J. Sarnowski, Elzbieta Sarnowska
Epigenetics Chromatin. 2019; 12: 68. Published online 2019 Nov 13. doi: 10.1186/s13072-019-0315-4
PMCID:
PMC6852734
10.
Lee-Chin Wong, Shekhar Singh, Hsin-Pei Wang, Chia-Jui Hsu, Su-Ching Hu, Wang-Tso Lee
Int J Mol Sci. 2019 Sep; 20(17): 4176. Published online 2019 Aug 26. doi: 10.3390/ijms20174176
PMCID:
PMC6747066
11.
Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer
Hum Mutat.
Published in final edited form as: Hum Mutat. 2015 Jan; 36(1): 106–117. doi: 10.1002/humu.22718
PMCID:
PMC4608231
12.
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton
J Med Genet. 2014 Nov; 51(11): 724–736. Published online 2014 Aug 28. doi: 10.1136/jmedgenet-2014-102554
PMCID:
PMC4215287
13.
Kavi P. Patel, Thomas W. O’Brien, Sankarasubramon H. Subramony, Jonathan Shuster, Peter W. Stacpoole
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2012 Jul; 106(3): 385–394. doi: 10.1016/j.ymgme.2012.03.017
PMCID:
PMC4003492
14.
Amélie Piton, Claire Redin, Jean-Louis Mandel
Am J Hum Genet. 2013 Aug 8; 93(2): 368–383. doi: 10.1016/j.ajhg.2013.06.013
PMCID:
PMC3738825
15.
Roger E. Stevenson, Kenton R. Holden, R. Curtis Rogers, Charles E. Schwartz
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2012 May; 55(5): 307–312. Published online 2012 Feb 8. doi: 10.1016/j.ejmg.2012.01.017
PMCID:
PMC3531238
16.
David S. Goldstein, Courtney S. Holmes, Stephen G. Kaler
Neurochem Res.
Published in final edited form as: Neurochem Res. 2009 Aug; 34(8): 1464–1468. Published online 2009 Feb 21. doi: 10.1007/s11064-009-9933-8
PMCID:
PMC3477515
17.
Leann E. Smith, Erin T. Barker, Marsha Mailick Seltzer, Leonard Abbeduto, Jan S. Greenberg
Am J Intellect Dev Disabil.
Published in final edited form as: Am J Intellect Dev Disabil. 2012 Jan; 117(1): 1–17. doi: 10.1352/1944-7558-117.1.1
PMCID:
PMC3388941
18.
Scott M. Paluszkiewicz, Jose Luis Olmos-Serrano, Joshua G. Corbin, Molly M. Huntsman
J Neurophysiol. 2011 Nov; 106(5): 2264–2272. Published online 2011 Jul 27. doi: 10.1152/jn.00421.2011
PMCID:
PMC3214096
19.
Jonathan I. Schneiderman, Akiko Sakai, Sara Goldstein, Kami Ahmad
Proc Natl Acad Sci U S A. 2009 Aug 25; 106(34): 14472–14477. Published online 2009 Aug 11. doi: 10.1073/pnas.0905816106
PMCID:
PMC2725014
20.
Y Feng, L Lakkis, D Devys, S T Warren
Am J Hum Genet. 1995 Jan; 56(1): 106–113.
PMCID:
PMC1801331

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