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Items: 1 to 20 of 500

1.
Marija Roddate, Gita Tauriņa, Vladimirs Krutovs, Dmitrijs Rots, Viktorija Kēniņa
Am J Case Rep. 2023; 24: e939217-1–e939217-6. Published online 2023 May 22. doi: 10.12659/AJCR.939217
PMCID:
PMC10215998
2.
Amarens Hoogenboom, Farah A. Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M. van Haelst
Eur J Hum Genet. 2024 Apr; 32(4): 435–439. Published online 2024 Jan 25. doi: 10.1038/s41431-023-01527-1
PMCID:
PMC10999433
3.
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
4.
Sarina A Piha-Paul, Binghe Xu, Ecaterina E Dumbrava, Siqing Fu, Daniel D Karp, Funda Meric-Bernstam, David S Hong, Jordi A Rodon, Apostolia M Tsimberidou, Kanwal Raghav, Jaffer A Ajani, Anthony P Conley, Frank Mott, Ying Fan, Jean Fan, Peng Peng, Hui Wang, Shumao Ni, Caixia Sun, Xiaoyan Qiang, Wendy J Levin, Brenda Ngo, Qinhua Cindy Ru, Frank Wu, Milind M Javle
Oncologist. 2024 Apr; 29(4): e514–e525. Published online 2024 Jan 31. doi: 10.1093/oncolo/oyad338
PMCID:
PMC10994248
5.
Jia Na, Lang Cui, Zhen Zhen, Xi Chen, Qirui Li, Lu Gao, Yue Yuan
BMC Pediatr. 2024; 24: 232. Published online 2024 Apr 2. doi: 10.1186/s12887-024-04703-4
PMCID:
PMC10985872
6.
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma
Mol Genet Genomic Med. 2024 Apr; 12(4): e2426. Published online 2024 Apr 1. doi: 10.1002/mgg3.2426
PMCID:
PMC10985408
7.
Iban Aldecoa, Isabel Barroeta, Steven L. Carroll, Juan Fortea, Anah Gilmore, Stephen D. Ginsberg, Samuel J. Guzman, Eric D. Hamlett, Elizabeth Head, Sylvia E. Perez, Huntington Potter, Laura Molina‐Porcel, Ruma Raha‐Chowdhury, Thomas Wisniewski, William H. Yong, Shahid Zaman, Sujay Ghosh, Elliott J. Mufson, Ann‐Charlotte Granholm
Alzheimers Dement. 2024 Mar; 20(3): 2262–2272. Published online 2024 Jan 25. doi: 10.1002/alz.13692
PMCID:
PMC10984425
8.
Elisa Borghi, Ornella Xynomilakis, Emerenziana Ottaviano, Camilla Ceccarani, Ilaria Viganò, Paola Tognini, Aglaia Vignoli
Sci Rep. 2024; 14: 7376. Published online 2024 Mar 28. doi: 10.1038/s41598-024-56989-0
PMCID:
PMC10978852
9.
Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, Anne K. Voss
J Clin Invest. 2024 Apr 1; 134(7): e167672. Published online 2024 Apr 1. doi: 10.1172/JCI167672
PMCID:
PMC10977983
10.
Andrea Gangfuß, Philipp Rating, Tomas Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, Albert Sickmann, Angela Abicht, Florian Kraft, Tobias Ruck, Johann Böhm, Anne Schänzer, Ulrike Schara-Schmidt, Teresa M. Neuhann, Rita Horvath, Andreas Roos
J Neuromuscul Dis. 2024; 11(2): 485–491. Prepublished online 2024 Jan 8. Published online 2024 Mar 5. doi: 10.3233/JND-230181
PMCID:
PMC10977349
11.
Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia
Mol Genet Genomic Med. 2024 Apr; 12(4): e2424. Published online 2024 Mar 28. doi: 10.1002/mgg3.2424
PMCID:
PMC10976422
12.
Yuchen Xu, Rui Song, Riley E. Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L. Park, James P. Allen, Kelsey A. Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D. McDaniels, Rehan Sheikh, Ruth K. Mizu, Manish M. Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer Sullivan, Vandana Shashi, Slave Petrovski, Robin-Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R. Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F. Boerkoel, Scott J. Myers, Johannes R. Lemke, Timothy A. Benke, Hongjie Yuan, Stephen F. Traynelis
Cell Mol Life Sci. 2024; 81(1): 153. Published online 2024 Mar 28. doi: 10.1007/s00018-023-05069-z
PMCID:
PMC10973091
13.
Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, Cecilia Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini, Alessandra Baracca, Valentina Giorgio, Elisabetta Tabolacci
Int J Mol Sci. 2024 Mar; 25(6): 3421. Published online 2024 Mar 18. doi: 10.3390/ijms25063421
PMCID:
PMC10970216
14.
YeEun Tak, Andrea Schneider, Ellery Santos, Jamie Leah Randol, Flora Tassone, Paul Hagerman, Randi J. Hagerman
Genes (Basel) 2024 Mar; 15(3): 331. Published online 2024 Mar 3. doi: 10.3390/genes15030331
PMCID:
PMC10970065
15.
Jamie L. Randol, Kyoungmi Kim, Matthew D. Ponzini, Flora Tassone, Alexandria K. Falcon, Randi J. Hagerman, Paul J. Hagerman
Genes (Basel) 2024 Mar; 15(3): 356. Published online 2024 Mar 13. doi: 10.3390/genes15030356
PMCID:
PMC10969917
16.
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x
PMCID:
PMC10967201
17.
Valerio Marino, Wanchana Phromkrasae, Michele Bertacchi, Paul Cassini, Krittalak Chakrabandhu, Daniele Dell'Orco, Michèle Studer
Protein Sci. 2024 Apr; 33(4): e4953. Published online 2024 Mar 21. doi: 10.1002/pro.4953
PMCID:
PMC10955615
18.
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel E. Harrison, Gabriela Jones, Henry Houlden, Giorgia Ceravolo, Joanna Jarvis, Jonathan Williams, Morag E. Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J.M. Blakes, Kay Metcalfe, Helen Kingston, Marta Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Genomics England Research Consortium, Esther B.E. Becker, Andrea H. Németh
Mov Disord. 2024 Jan; 39(1): 141–151. Published online 2023 Nov 14. doi: 10.1002/mds.29651
PMCID:
PMC10952845
19.
Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli
Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056
PMCID:
PMC10952833
20.
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Am J Med Genet A. 2023 Feb; 191(2): 357–369. Published online 2022 Nov 8. doi: 10.1002/ajmg.a.63027
PMCID:
PMC10952635

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