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Items: 1 to 20 of 85

1.
Alecia Biel, Anthony S. Castanza, Ryan Rutherford, Summer R. Fair, Lincoln Chifamba, Jason C. Wester, Mark E. Hester, Robert F. Hevner
Front Mol Neurosci. 2022; 15: 858582. Published online 2022 Mar 31. doi: 10.3389/fnmol.2022.858582
PMCID:
PMC9008325
2.
Silke Pauli, Hanna Berger, Roser Ufartes, Annette Borchers
Front Cell Dev Biol. 2021; 9: 779009. Published online 2021 Nov 5. doi: 10.3389/fcell.2021.779009
PMCID:
PMC8602103
3.
Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Genes (Basel) 2021 Sep; 12(9): 1360. Published online 2021 Aug 30. doi: 10.3390/genes12091360
PMCID:
PMC8471078
4.
P. Anne Weisner, Chih-Ying Chen, Younguk Sun, Jennifer Yoo, Wei-Chun Kao, Huimin Zhang, Emily T. Baltz, Joseph M. Troy, Lisa Stubbs
G3 (Bethesda) 2019 Nov; 9(11): 3891–3906. Published online 2019 Sep 25. doi: 10.1534/g3.119.400723
PMCID:
PMC6829118
5.
Kei Hori, Mikio Hoshino
Brain Sci. 2017 May; 7(5): 54. Published online 2017 May 14. doi: 10.3390/brainsci7050054
PMCID:
PMC5447936
6.
Gea Beunders, Sonja A de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J Groffen, Willy M Nillesen, Elizabeth J Meijers-Heijboer, R Frank Kooy, Helger G Yntema, Erik A Sistermans
Eur J Hum Genet. 2015 Jun; 23(6): 803–807. Published online 2014 Sep 10. doi: 10.1038/ejhg.2014.173
PMCID:
PMC4795056
7.
Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean A Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester
Brain. 2023 Jan; 146(1): 387–404. Published online 2022 Jul 8. doi: 10.1093/brain/awac244
PMCID:
PMC9825673
8.
Robert A. Sellers, David L. Robertson, May Tassabehji
PLoS One. 2020; 15(12): e0232101. Published online 2020 Dec 11. doi: 10.1371/journal.pone.0232101
PMCID:
PMC7732068
9.
Roser Ufartes, Hanna Berger, Katharina Till, Gabriela Salinas, Marc Sturm, Janine Altmüller, Peter Nürnberg, Holger Thiele, Rudolf Funke, Neophytos Apeshiotis, Hendrik Langen, Bernd Wollnik, Annette Borchers, Silke Pauli
Hum Genet. 2020; 139(11): 1363–1379. Published online 2020 May 18. doi: 10.1007/s00439-020-02175-x
PMCID:
PMC7519918
10.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan Sell, Roger Ladda, Darren M. Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de Los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier-Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers-Heijboer, Danielle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans
Am J Hum Genet. 2013 Feb 7; 92(2): 210–220. doi: 10.1016/j.ajhg.2012.12.011
PMCID:
PMC3567268
11.
Chih-Ying Chen, Christopher H Seward, Yunshu Song, Manasi Inamdar, Analise M. Leddy, Huimin Zhang, Jennifer Yoo, Wei-Chun Kao, Hanna Pawlowski, Lisa J Stubbs
Dev Biol.
Published in final edited form as: Dev Biol. 2022 Oct; 490: 155–171. Published online 2022 Aug 21. doi: 10.1016/j.ydbio.2022.08.002
PMCID:
PMC10671221
12.
Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada
Clin Case Rep. 2019 Nov; 7(11): 2059–2063. Published online 2019 Sep 24. doi: 10.1002/ccr3.2377
PMCID:
PMC6878208
13.
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
14.
Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij
J Clin Endocrinol Metab. 2023 Sep; 108(9): e754–e768. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad147
PMCID:
PMC10438882
15.
Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor
Mol Autism. 2023; 14: 26. Published online 2023 Jul 25. doi: 10.1186/s13229-023-00559-0
PMCID:
PMC10369759
16.
Alejandra Alonso, Anumita Samanta, Jacqueline van der Meij, Liz van den Brand, Moritz Negwer, Irene Navarro Lobato, Lisa Genzel
Anim Cogn. 2023; 26(4): 1131–1140. Published online 2023 Mar 6. doi: 10.1007/s10071-023-01757-2
PMCID:
PMC10345049
17.
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
Acta Neuropathol. 2023; 146(2): 353–368. Published online 2023 Apr 29. doi: 10.1007/s00401-023-02579-9
PMCID:
PMC10328903
18.
Carmen Barba, Ingmar Blumcke, Melodie R. Winawer, Till Hartlieb, Hoon-Chul Kang, Laura Grisotto, Mathilde Chipaux, Christian G. Bien, Barbora Heřmanovská, Brenda E. Porter, Hart G.W. Lidov, Valentina Cetica, Friedrich G. Woermann, Javier A. Lopez-Rivera, Peter D. Canoll, Irina Mader, Ludovico D'Incerti, Sara Baldassari, Edward Yang, Ahmed Gaballa, Hannes Vogel, Barbora Straka, Letizia Macconi, Tilman Polster, Gerald A. Grant, Lenka Krsková, Hui Jin Shin, Ara Ko, Peter B. Crino, Pavel Krsek, Jeong Ho Lee, Dennis Lal, Stéphanie Baulac, Annapurna Poduri, Renzo Guerrini, on behalf of the SLC35A2 Study Group
Neurology. 2023 Jan 31; 100(5): e528–e542. doi: 10.1212/WNL.0000000000201471
PMCID:
PMC9931085
19.
Keegan Flanagan, Alireza Baradaran-Heravi, Qi Yin, Khanh Dao Duc, Allan C Spradling, Ethan J Greenblatt
Genetics. 2022 Aug; 221(4): iyac094. Published online 2022 Jun 22. doi: 10.1093/genetics/iyac094
PMCID:
PMC9339308
20.
Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao
Ital J Pediatr. 2022; 48: 121. Published online 2022 Jul 23. doi: 10.1186/s13052-022-01319-1
PMCID:
PMC9308266

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