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Items: 1 to 20 of 482

1.
Qingtian Li, Fan Lei, Yi Tang, Jenny Szu-Chin Pan, Qiang Tong, Yuxiang Sun, David Sheikh-Hamad
Cell Mol Life Sci. 2018 Nov; 75(21): 4021–4040. Published online 2018 Jun 9. doi: 10.1007/s00018-018-2847-3
PMCID:
PMC11105752
2.
Elena Capacci, Silvia Bagnoli, Giulia Giacomucci, Costanza Maria Rapillo, Alessandra Govoni, Valentina Bessi, Cristina Polito, Irene Giotti, Alice Brogi, Elisabetta Pelo, Sandro Sorbi, Benedetta Nacmias, Camilla Ferrari
Cerebellum. 2024; 23(3): 1135–1145. Published online 2023 Oct 31. doi: 10.1007/s12311-023-01620-7
PMCID:
PMC11102406
3.
Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh
BMC Med Genomics. 2024; 17: 130. Published online 2024 May 14. doi: 10.1186/s12920-024-01857-z
PMCID:
PMC11094910
4.
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
5.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
6.
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542
PMCID:
PMC10952634
7.
Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L. Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
Am J Hum Genet. 2024 Mar 7; 111(3): 594–613. Published online 2024 Feb 28. doi: 10.1016/j.ajhg.2024.02.005
PMCID:
PMC10940020
8.
Yağmur Ünsal, Gamze Hayran
J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 116–122. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-10-1
PMCID:
PMC10938514
9.
Haoyu Jiang, Anna O. Giarratana, Thomas Theis, Vini Nagaraj, Xiaofeng Zhou, Smita Thakker-Varia, Melitta Schachner, Janet Alder
Int J Mol Sci. 2024 Mar; 25(5): 3043. Published online 2024 Mar 6. doi: 10.3390/ijms25053043
PMCID:
PMC10932301
10.
Abdulfatah M. Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A. Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit
Sci Rep. 2024; 14: 5765. Published online 2024 Mar 8. doi: 10.1038/s41598-024-56253-5
PMCID:
PMC10923806
11.
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Orphanet J Rare Dis. 2024; 19: 107. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03065-5
PMCID:
PMC10921669
12.
Sheng Yi, Xianglian Tang, Fei Chen, Linlin Wang, Junjie Chen, Zuojian Yang, Minpan Huang, Shang Yi, Limei Huang, Qi Yang, Shuihua Yang, Pingshan Pan, Zailong Qin, Jingsi Luo
Mol Genet Genomic Med. 2024 Jan; 12(1): e2358. Published online 2024 Jan 12. doi: 10.1002/mgg3.2358
PMCID:
PMC10785557
13.
Fan Yang, Yu Ding, Yirou Wang, Qingwen Zhang, Hao Li, Tingting Yu, Guoying Chang, Xiumin Wang
Medicine (Baltimore) 2024 Jan 12; 103(2): e35908. Published online 2024 Jan 12. doi: 10.1097/MD.0000000000035908
PMCID:
PMC10783315
14.
Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz
Genes (Basel) 2023 Dec; 14(12): 2143. Published online 2023 Nov 27. doi: 10.3390/genes14122143
PMCID:
PMC10743110
15.
Daria Kostanian, Anna Rebreikina, Victoria Voinova, Olga Sysoeva
Mol Autism. 2023; 14: 40. Published online 2023 Oct 26. doi: 10.1186/s13229-023-00566-1
PMCID:
PMC10605980
16.
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
17.
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Mol Genet Genomic Med. 2023 Sep; 11(9): e2219. Published online 2023 Jun 23. doi: 10.1002/mgg3.2219
PMCID:
PMC10496051
18.
Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565
PMCID:
PMC10454071
19.
Olga Sysoeva, Vladimir Maximenko, Alexander Kuc, Victoria Voinova, Olga Martynova, Alexander Hramov
Sci Rep. 2023; 13: 12932. Published online 2023 Aug 9. doi: 10.1038/s41598-023-39398-7
PMCID:
PMC10412611
20.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417

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