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Items: 1 to 20 of 500

1.
Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene
Clin Epigenetics. 2024; 16: 76. Published online 2024 Jun 6. doi: 10.1186/s13148-024-01686-y
PMCID:
PMC11157947
2.
Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, Emma Boslet, Cynthia J. Tifft, William A. Gahl, Paul R. Lee
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2768–2776. Published online 2018 Dec 11. doi: 10.1002/ajmg.a.40628
PMCID:
PMC11157598
3.
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A. Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Marco Tartaglia, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Eur J Hum Genet. 2024 Jun; 32(6): 619–629. Published online 2024 Feb 13. doi: 10.1038/s41431-024-01548-4
PMCID:
PMC11153515
4.
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
5.
Lottie D. Morison, Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer, Adam P. Vogel, Frederique Liégeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. Scheffer, Tjitske Kleefstra, Angela T. Morgan
J Med Genet.
Published in final edited form as: J Med Genet. 2024 May 21; 61(6): 578–585. Published online 2024 May 21. doi: 10.1136/jmg-2023-109702
PMCID:
PMC11148766
6.
Noah Guy Lewis Guiberson, Luca S Black, Jillian E Haller, Aniv Brukner, Debra Abramov, Saad Ahmad, Yan Xin Xie, Manu Sharma, Jacqueline Burré
Brain. 2024 Jun; 147(6): 2185–2202. Published online 2024 Jan 18. doi: 10.1093/brain/awae019
PMCID:
PMC11146428
7.
Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen
Epilepsia Open. 2024 Jun; 9(3): 832–849. Published online 2024 Mar 7. doi: 10.1002/epi4.12914
PMCID:
PMC11145618
8.
Jonna Komulainen‐Ebrahim, Salla M. Kangas, Estrella López‐Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez‐Delgado, Outi Kuismin, Maria Suo‐Palosaari, Lucinda Carr, Reetta Hinttala, Manju A. Kurian, Johanna Uusimaa
Mov Disord Clin Pract. 2024 Jun; 11(6): 708–715. Published online 2024 May 2. doi: 10.1002/mdc3.14051
PMCID:
PMC11145100
9.
Mingyi Zhang, Tingwei Guo, Fei Pei, Jifan Feng, Junjun Jing, Jian Xu, Takahiko Yamada, Thach-Vu Ho, Jiahui Du, Prerna Sehgal, Yang Chai
Nat Commun. 2024; 15: 4614. Published online 2024 May 30. doi: 10.1038/s41467-024-48285-2
PMCID:
PMC11139927
10.
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Genome Med. 2024; 16: 72. Published online 2024 May 30. doi: 10.1186/s13073-024-01339-y
PMCID:
PMC11137988
11.
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
J Med Genet. 2024 Jun; 61(6): 503–519. Published online 2024 Mar 12. doi: 10.1136/jmg-2023-109438
PMCID:
PMC11137475
12.
A. Mishra, N. R. Jana
Cell Mol Life Sci. 2008 Feb; 65(4): 656–666. Published online 2008 Jan 12. doi: 10.1007/s00018-007-7476-1
PMCID:
PMC11131694
13.
Xin Wang, Yi Qu, Jiayu Fan, Huiqiang Ren
Front Immunol. 2024; 15: 1388734. Published online 2024 May 14. doi: 10.3389/fimmu.2024.1388734
PMCID:
PMC11130348
14.
Hanna Berger, Sarah Gerstner, Marc-Frederik Horstmann, Silke Pauli, Annette Borchers
Dis Model Mech. 2024 Jun 1; 17(6): dmm050507. Published online 2024 May 14. doi: 10.1242/dmm.050507
PMCID:
PMC11128277
15.
Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng
BMC Med Genomics. 2024; 17: 142. Published online 2024 May 24. doi: 10.1186/s12920-024-01904-9
PMCID:
PMC11127418
16.
Miles D. Thompson, Alexej Knaus
Genes (Basel) 2024 May; 15(5): 619. Published online 2024 May 14. doi: 10.3390/genes15050619
PMCID:
PMC11121671
17.
Muhammad A. Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I. Majeed, Kausar Malik, Khushbakht Fatima, Asma A. Khan, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Genes (Basel) 2024 May; 15(5): 580. Published online 2024 May 2. doi: 10.3390/genes15050580
PMCID:
PMC11121239
18.
Alba Gabaldon-Albero, Sonia Mayo, Francisco Martinez
Int J Mol Sci. 2024 May; 25(10): 5198. Published online 2024 May 10. doi: 10.3390/ijms25105198
PMCID:
PMC11120677
19.
Olga Voloshin, Yana Gocheva, Marina Gutnick, Natalia Movshovich, Anya Bakhrat, Keren Baranes-Bachar, Dudy Bar-Zvi, Ruti Parvari, Larisa Gheber, Dina Raveh
Cell Mol Life Sci. 2010 Jun; 67(12): 2025–2038. Published online 2010 Mar 4. doi: 10.1007/s00018-010-0308-8
PMCID:
PMC11115895
20.
A. Fico, F. Maina, R. Dono
Cell Mol Life Sci. 2011 Mar; 68(6): 923–929. Published online 2011 Feb 22. doi: 10.1007/s00018-007-7471-6
PMCID:
PMC11114805

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