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Items: 1 to 20 of 253

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.
Jisun Park, Eun Young Joo, Myung Ji Yoo, Su-Jin Kim, Woori Jang, Ji-Eun Lee
Medicine (Baltimore) 2024 Jul 19; 103(29): e38976. Published online 2024 Jul 19. doi: 10.1097/MD.0000000000038976
PMCID:
PMC11398833
6.
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
7.
Xin Ma, Jing Zeng, Wei Xiao, Wenwen Li, Juanli Cheng, Jinshui Lin
Int J Mol Sci. 2024 Aug; 25(16): 8611. Published online 2024 Aug 7. doi: 10.3390/ijms25168611
PMCID:
PMC11354437
8.
Bhumil Patel, Maryke Grobler, Alberto Herrera, Elias Logari, Valery Ortiz, Needhi Bhalla
Version 2. bioRxiv. Preprint. 2024 Aug 13 [revised 2024 Dec 19]. doi: 10.1101/2024.08.13.607819
PMCID:
PMC11343117
9.
Samuel Aguirre, Stella Pappa, Núria Serna-Pujol, Natalia Padilla, Simona Iacobucci, A Silvina Nacht, Guillermo P Vicent, Albert Jordan, Xavier de la Cruz, Marian A Martínez-Balbás
EMBO Rep. 2024 Aug; 25(8): 3486–3505. Published online 2024 Jun 18. doi: 10.1038/s44319-024-00178-7
PMCID:
PMC11315909
10.
Hanadi A. Abdelrahman, Nadia Akawi, Aisha M. Al-Shamsi, Lihadh Al-Gazali, Bassam R. Ali
J Pediatr Genet. 2024 Sep; 13(3): 215–222. Published online 2022 May 20. doi: 10.1055/s-0042-1748018
PMCID:
PMC11288706
11.
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
12.
Valentina Munera, Verónica Jaramillo, Brayan Muñoz-Caicedo, Sergio Vargas
Cureus. 2024 Apr; 16(4): e58522. Published online 2024 Apr 18. doi: 10.7759/cureus.58522
PMCID:
PMC11218430
13.
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
14.
Agnese Petraccioli, Nicola Maio, Rosa Carotenuto, Gaetano Odierna, Fabio Maria Guarino
Genes (Basel) 2024 May; 15(5): 541. Published online 2024 Apr 25. doi: 10.3390/genes15050541
PMCID:
PMC11121367
15.
Gerd Ludwig, Ivan Ranđelović, Dušan Dimić, Teodora Komazec, Danijela Maksimović-Ivanić, Sanja Mijatović, Tobias Rüffer, Goran N. Kaluđerović
Biomolecules. 2024 Apr; 14(4): 420. Published online 2024 Mar 30. doi: 10.3390/biom14040420
PMCID:
PMC11048224
16.
Tianli Wei, Shuguang Shan, Zhaojun Jia, Yingxue Ding
Heliyon. 2024 Apr 15; 10(7): e28678. Published online 2024 Mar 29. doi: 10.1016/j.heliyon.2024.e28678
PMCID:
PMC11002060
17.
Needhi Bhalla
Curr Top Dev Biol.
Published in final edited form as: Curr Top Dev Biol. 2023; 151: 317–344. Published online 2022 Jul 28. doi: 10.1016/bs.ctdb.2022.07.001
PMCID:
PMC10947530
18.
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
19.
Adrien Guillaume, Vojtech Stejskal, Guillaume Smits, Dorottya Kelen
Front Pediatr. 2024; 12: 1303772. Published online 2024 Feb 23. doi: 10.3389/fped.2024.1303772
PMCID:
PMC10920260
20.
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

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