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Links from MedGen

Items: 1 to 20 of 25

1.
John Paietta, Malcolm L. Sargent
Genetics. 1983 May; 104(1): 11–21. doi: 10.1093/genetics/104.1.11
PMCID:
PMC1202057
2.
O Reiner, U Albrecht, M Gordon, KA Chianese, C Wong, O Gal-Gerber, T Sapir, LD Siracusa, AM Buchberg, CT Caskey
J Neurosci. 1995 May 1; 15(5): 3730–3738. doi: 10.1523/JNEUROSCI.15-05-03730.1995
PMCID:
PMC6578245
3.
Katelyn J Hoff, Jayne E Aiken, Mark A Gutierrez, Santos J Franco, Jeffrey K Moore
eLife. 2022; 11: e76189. Published online 2022 May 5. doi: 10.7554/eLife.76189
PMCID:
PMC9236607
4.
Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K. Pal, Michael J. Parker, Johannes R. Lemke, Georg F. Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe
Eur J Hum Genet. 2022 Mar; 30(3): 298–306. Published online 2022 Jan 11. doi: 10.1038/s41431-021-01027-0
PMCID:
PMC8904761
5.
S.K. Goergen, E. Alibrahim, J. Christie, A. Dobrotwir, M. Fahey, L. Fender, K. Frawley, S.A. Manikkam, J.R. Pinner, S. Sinnott, R. Romaniello, S.A. Sandaradura, J. Taylor, A. Vasudevan, A. Righini
AJNR Am J Neuroradiol. 2021 Aug; 42(8): 1528–1534. doi: 10.3174/ajnr.A7131
PMCID:
PMC8367629
6.
Ines Leca, Alexander William Phillips, Iris Hofer, Lukas Landler, Lyubov Ushakova, Thomas David Cushion, Gerhard Dürnberger, Karel Stejskal, Karl Mechtler, David Anthony Keays
PLoS Genet. 2020 Nov; 16(11): e1009104. Published online 2020 Nov 2. doi: 10.1371/journal.pgen.1009104
PMCID:
PMC7660477
7.
Özge AKSEL KILIÇARSLAN, Esra ATAMAN, Semra GÜRSOY, Gürkan GÜRBÜZ, Aycan ÜNALP, Pınar GENÇPINAR, Nihal OLGAÇ DÜNDAR, Selvinaz EDİZER, Ayfer ÜLGENALP, Özlem GİRAY BOZKAYA
Turk J Med Sci. 2020; 50(6): 1573–1579. Published online 2020 Oct 22. doi: 10.3906/sag-1901-170
PMCID:
PMC7605093
8.
Jayne Aiken, Jeffrey K Moore, Emily A Bates
Hum Mol Genet. 2019 Apr 15; 28(8): 1227–1243. Published online 2018 Dec 4. doi: 10.1093/hmg/ddy416
PMCID:
PMC6452179
9.
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Orphanet J Rare Dis. 2019; 14: 38. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1020-x
PMCID:
PMC6371496
10.
Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda M. Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T. Myers, Jean-Baptiste Rivière, Maha S. Zaki, University of Washington Center for Mendelian Genomics, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns
Genet Med.
Published in final edited form as: Genet Med. 2018 Nov; 20(11): 1354–1364. Published online 2018 Apr 19. doi: 10.1038/gim.2018.8
PMCID:
PMC6195491
11.
Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito
Int J Mol Sci. 2017 Nov; 18(11): 2273. Published online 2017 Oct 29. doi: 10.3390/ijms18112273
PMCID:
PMC5713243
12.
Yohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, Ritsuko K. Pooh, Yoko Tateishi, Jun-ichi Takanashi, Hidetsuna Utsunomiya, Miho Sumida, Daisuke Kanematsu, Hiroshi Suemizu, Yuichiro Higuchi, Wado Akamatsu, Denis Gallagher, Freda D. Miller, Mami Yamasaki, Yonehiro Kanemura, Hideyuki Okano
Mol Brain. 2016; 9: 70. Published online 2016 Jul 19. doi: 10.1186/s13041-016-0246-y
PMCID:
PMC4950778
13.
Setsuri Yokoi, Naoko Ishihara, Fuyuki Miya, Makiko Tsutsumi, Itaru Yanagihara, Naoko Fujita, Hiroyuki Yamamoto, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Seiji Kojima, Shinji Saitoh, Hiroki Kurahashi, Jun Natsume
Sci Rep. 2015; 5: 15165. Published online 2015 Oct 23. doi: 10.1038/srep15165
PMCID:
PMC4615979
14.
Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo-Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew J. Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty
Hum Mol Genet. 2015 Sep 15; 24(18): 5313–5325. Published online 2015 Jun 30. doi: 10.1093/hmg/ddv250
PMCID:
PMC4550818
15.
Catherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, Ferechte Razavi, Fabien Guimiot, Patricia Dias, Laurence Loeuillet, Karine Lascelles, Cherif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revencu, Marie-Claude Addor, Benoit Lhermitte, Marie Gonzales, Jelena Martinovich, Bettina Bessieres, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi-Buisson
Acta Neuropathol Commun. 2014; 2: 69. Published online 2014 Jul 25. doi: 10.1186/2051-5960-2-69
PMCID:
PMC4222268
16.
Keiko Shimojima, Aya Narita, Yoshihiro Maegaki, Akira Saito, Toru Furukawa, Toshiyuki Yamamoto
BMC Res Notes. 2014; 7: 465. Published online 2014 Jul 22. doi: 10.1186/1756-0500-7-465
PMCID:
PMC4118784
17.
Karine Poirier, Yoann Saillour, Franck Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Cherif Beldjord, Jamel Chelly, Nadia Bahi-Buisson
Eur J Hum Genet. 2013 Apr; 21(4): 381–385. Published online 2012 Sep 5. doi: 10.1038/ejhg.2012.195
PMCID:
PMC3598328
18.
Martin Breuss, Julian Ik-Tsen Heng, Karine Poirier, Guoling Tian, Xavier Hubert Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi-Buisson, Marie-Laure Moutard, Sandrine Passemard, Alain Verloes, Pierre Gressens, Yunli Xie, Kathryn J.H. Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas Justin Cowan, David Anthony Keays
Cell Rep. 2012 Dec 27; 2(6): 1554–1562. doi: 10.1016/j.celrep.2012.11.017
PMCID:
PMC3595605
19.
Ganeshwaran H. Mochida
Semin Pediatr Neurol.
Published in final edited form as: Semin Pediatr Neurol. 2009 Sep; 16(3): 120–126. doi: 10.1016/j.spen.2009.07.001
PMCID:
PMC3565221
20.
Max A. Tischfield, Elizabeth C. Engle
Biosci Rep.
Published in final edited form as: Biosci Rep. 2010 Apr 15; 30(5): 319–330. Published online 2010 Apr 15. doi: 10.1042/BSR20100025
PMCID:
PMC3319081

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