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Items: 1 to 20 of 115

1.
Afrasiab Khan, Anees Muhammad, Hidayat Ullah, Hina Ambreen, Abeed Ullah, Patrick May, Holger Lerche, Tobias B. Haack, Shoaib ur Rehman, Josua Kegele
Clin Genet. 2025 Jan; 107(1): 98–103. Published online 2024 Oct 14. doi: 10.1111/cge.14627
PMCID:
PMC11608837
2.
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G. Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer
Dis Model Mech. 2024 Jul 1; 17(7): dmm050740. Published online 2024 Jul 22. doi: 10.1242/dmm.050740
PMCID:
PMC11552497
3.
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, Semra Hiz Kurul, Uluc Yis, Mustafa Komur, Faruk Incecik, Bulent Kara, Turkan Sahin, Olcay Unver, Cengiz Dilber, Gulen Gul Mert, Cagatay Gunay, Gamze Sarikaya Uzan, Ozlem Ersoy, Yavuz Oktay, Serdar Mermer, Gokcen Oz Tuncer, Olcay Gungor, Gul Demet Kaya Ozcora, Ugur Gumus, Ozlem Sezer, Gokhan Ozan Cetin, Fatma Demir, Arzu Yilmaz, Gurkan Gurbuz, Meral Topcu, Haluk Topaloglu, Ahmet Cevdet Ceylan, Serdar Ceylaner, Joseph G. Gleeson, Dilara Fusun Icagasioglu, F. Mujgan Sonmez
Cerebellum. 2024; 23(5): 1950–1965. Published online 2024 Apr 15. doi: 10.1007/s12311-024-01690-1
PMCID:
PMC11489189
4.
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Ange-Line Bruel, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Laurence Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
J Med Genet. 2024 Sep; 61(9): 824–832. Published online 2024 Jun 7. doi: 10.1136/jmg-2024-109854
PMCID:
PMC11420740
5.
Marco Flores-Mendez, Laura Ohl, Thomas Roule, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh, Xilma R Ortiz-González, Naiara Akizu
EMBO Rep. 2024 Sep; 25(9): 3990–4012. Published online 2024 Jul 29. doi: 10.1038/s44319-024-00218-2
PMCID:
PMC11387764
6.
Kioa L. Wijnsma, Anne M. Schijvens, Romy N. Bouwmeester, Lonneke A. M. Aarts, Lambertus (Bert) P. van den Heuvel, Charlotte A. Haaxma, Nicole C. A. J. van de Kar
Int J Mol Sci. 2024 Jul; 25(14): 7604. Published online 2024 Jul 11. doi: 10.3390/ijms25147604
PMCID:
PMC11277116
7.
Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo
Ann Clin Transl Neurol. 2024 Jun; 11(6): 1615–1629. Published online 2024 May 15. doi: 10.1002/acn3.52079
PMCID:
PMC11187879
8.
Nadirah S. Damseh, Ali N. Obeidat, Khondakar Sayef Ahammed, Motee Al-Ashhab, Motee Abu Awad, Ambro van Hoof
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1923–1928. Published online 2023 Apr 6. doi: 10.1002/ajmg.a.63198
PMCID:
PMC10942657
9.
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w
PMCID:
PMC10910770
10.
Yingfeng Tu, Qin Yang, Min Tang, Li Gao, Yuanhao Wang, Jiuqiang Wang, Zhe Liu, Xiaoyu Li, Lejiao Mao, Rui zhen Jia, Yuan Wang, Tie-shan Tang, Pinglong Xu, Yan Liu, Lunzhi Dai, Da Jia
Nat Commun. 2024; 15: 1785. Published online 2024 Feb 27. doi: 10.1038/s41467-024-46166-2
PMCID:
PMC10899256
11.
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong
Epilepsia Open. 2024 Feb; 9(1): 250–257. Published online 2023 Dec 8. doi: 10.1002/epi4.12862
PMCID:
PMC10839330
12.
Maha S. Zaki, Sherif F. Abdel-Ghafar, Mohamed S. Abdel-Hamid
J Hum Genet. 2024; 69(2): 79–84. Published online 2023 Nov 29. doi: 10.1038/s10038-023-01207-4
PMCID:
PMC10810757
13.
Tiantai Ma, Erica S. Xiong, Rea M. Lardelli, Jens Lykke-Andersen
Proc Natl Acad Sci U S A. 2024 Jan 16; 121(3): e2315259121. Published online 2024 Jan 9. doi: 10.1073/pnas.2315259121
PMCID:
PMC10801842
14.
郑 祎, 于 欣雨, 张 婷, 胡 凌微, 周 朵, 黄 新文
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 738–743. Chinese. Published online 2023 Dec 7. doi: 10.3724/zdxbyxb-2023-0421
PMCID:
PMC10764186
15.
Lin Zhao, Huaqing Deng, Qing Yang, Yingying Tang, Jia Zhao, Ping Li, Sitao Zhang, Xin Yong, Tianxing Li, Daniel D. Billadeau, Da Jia
Proc Natl Acad Sci U S A. 2023 Nov 7; 120(45): e2309910120. Published online 2023 Oct 30. doi: 10.1073/pnas.2309910120
PMCID:
PMC10636324
16.
Cassandra K. Hayne, Kevin John U. Butay, Zachary D. Stewart, Juno M. Krahn, Lalith Perera, Jason G. Williams, Robert M. Petrovitch, Leesa J. Deterding, A. Gregory Matera, Mario J. Borgnia, Robin E. Stanley
Nat Struct Mol Biol.
Published in final edited form as: Nat Struct Mol Biol. 2023 Jun; 30(6): 824–833. Published online 2023 May 25. doi: 10.1038/s41594-023-00991-z
PMCID:
PMC10627149
17.
Jeanne Rakotopare, Vincent Lejour, Carla Duval, Eliana Eldawra, Hugues Escoffier, Franck Toledo
Dis Model Mech. 2023 Oct 1; 16(10): dmm050376. Published online 2023 Oct 11. doi: 10.1242/dmm.050376
PMCID:
PMC10581385
18.
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Int J Mol Sci. 2023 Sep; 24(18): 13699. Published online 2023 Sep 5. doi: 10.3390/ijms241813699
PMCID:
PMC10530954
19.
Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
HGG Adv. 2023 Oct 12; 4(4): 100236. Published online 2023 Sep 3. doi: 10.1016/j.xhgg.2023.100236
PMCID:
PMC10510067
20.
Thao Ngoc Huynh, Roy Parker
J Biol Chem. 2023 Sep; 299(9): 105139. Published online 2023 Aug 6. doi: 10.1016/j.jbc.2023.105139
PMCID:
PMC10493513

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