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Links from MedGen

Items: 1 to 20 of 500

1.
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0
PMCID:
PMC11084001
2.
Zain Awamleh, Sarah Goodman, Sanaa Choufani, Rosanna Weksberg
Hum Genet. 2024; 143(4): 551–557. Published online 2023 Apr 6. doi: 10.1007/s00439-023-02544-2
PMCID:
PMC11078831
3.
Eli Matsell, Jens Peter Andersen, Robert S. Molday
Dis Model Mech. 2024 Jun 1; 17(6): dmm050546. Published online 2024 Apr 24. doi: 10.1242/dmm.050546
PMCID:
PMC11073571
4.
Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki
BMC Pediatr. 2024; 24: 308. Published online 2024 May 6. doi: 10.1186/s12887-024-04774-3
PMCID:
PMC11071253
5.
Madeline H. Garvey, Tiffany Nash, J. Shane Kippenhan, Philip Kohn, Carolyn B. Mervis, Daniel P. Eisenberg, Jean Ye, Michael D. Gregory, Karen F. Berman
Sci Rep. 2024; 14: 10304. Published online 2024 May 5. doi: 10.1038/s41598-024-60460-5
PMCID:
PMC11070425
6.
Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192
PMCID:
PMC11068498
7.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
8.
Nitin Khandelwal, Ashwinikumar Kulkarni, Newaz I. Ahmed, Matthew Harper, Genevieve Konopka, Jay R. Gibson
Sci Adv. 2024 May 3; 10(18): eadm7039. Published online 2024 May 3. doi: 10.1126/sciadv.adm7039
PMCID:
PMC11068015
9.
Sivakama S. Bharathi, Bob B. Zhang, Eli Paul, Yuxun Zhang, Alexandra V. Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-ichiro Inamori, Jin-ichi Inokuchi, Eric S. Goetzman
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 342–348. Published online 2022 Oct 28. doi: 10.1016/j.ymgme.2022.10.006
PMCID:
PMC11061803
10.
Kim M. Cornish, Lexin Li, Cary S. Kogan, Sebastien Jacquemont, Jeremy Turk, Ann Dalton, Randi J. Hagerman., Paul J. Hagerman
Cortex.
Published in final edited form as: Cortex. 2008 Jun; 44(6): 628–636. Published online 2007 Dec 23. doi: 10.1016/j.cortex.2006.11.002
PMCID:
PMC11060834
11.
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
J Neurol. 2024; 271(5): 2859–2865. Published online 2024 Mar 5. doi: 10.1007/s00415-024-12271-x
PMCID:
PMC11055771
12.
Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thoms
J Mol Med (Berl) 2024; 102(5): 641–653. Published online 2024 Mar 2. doi: 10.1007/s00109-024-02436-6
PMCID:
PMC11055764
13.
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9
PMCID:
PMC11055696
14.
Alessia Muscò, Davide Martini, Matteo Digregorio, Vania Broccoli, Massimiliano Andreazzoli
Genes (Basel) 2024 Apr; 15(4): 492. Published online 2024 Apr 15. doi: 10.3390/genes15040492
PMCID:
PMC11050278
15.
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, on behalf of the Rare Genomes Project Consortium, Társis Paiva Vieira, Carlos Eduardo Steiner
Genes (Basel) 2024 Apr; 15(4): 513. Published online 2024 Apr 19. doi: 10.3390/genes15040513
PMCID:
PMC11049871
16.
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430
PMCID:
PMC11049644
17.
Ineke Cordova, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra
Genes (Basel) 2024 Apr; 15(4): 423. Published online 2024 Mar 28. doi: 10.3390/genes15040423
PMCID:
PMC11049257
18.
Khatereh Saei Arezoumand, Chris-Tiann Roberts, Mojgan Rastegar
Biomolecules. 2024 Apr; 14(4): 505. Published online 2024 Apr 21. doi: 10.3390/biom14040505
PMCID:
PMC11048179
19.
Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Koehler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela-Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, Michael Sattler, Dierk Niessing
eLife. 2024; 13: RP93561. Published online 2024 Apr 24. doi: 10.7554/eLife.93561
PMCID:
PMC11042805
20.
Charles H. Schleifer, Kathleen P. O’Hora, Hoki Fung, Jennifer Xu, Taylor-Ann Robinson, Angela S. Wu, Leila Kushan-Wells, Amy Lin, Christopher R. K. Ching, Carrie E. Bearden
Neuropsychopharmacology. 2024 May; 49(6): 1024–1032. Published online 2024 Mar 2. doi: 10.1038/s41386-024-01832-3
PMCID:
PMC11039652

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