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Items: 1 to 20 of 500

1.
Chihiro Abe-Hatano, Ken Inoue, Eri Takeshita, Yosuke Kawai, Katsushi Tokunaga, Yu-ichi Goto
J Med Genet. 2024 Oct; 61(12): e110068. Published online 2024 Oct 28. doi: 10.1136/jmg-2024-110068
PMCID:
PMC11671988
2.
Jing Zhao, Lian Chen, Ni Wang, Xin-bao Xie
Orphanet J Rare Dis. 2024; 19: 486. Published online 2024 Dec 23. doi: 10.1186/s13023-024-03487-1
PMCID:
PMC11668023
3.
Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho
Genome Med. 2024; 16: 146. Published online 2024 Dec 18. doi: 10.1186/s13073-024-01411-7
PMCID:
PMC11658439
4.
Marina Mata, Marina M. Tabbara, Angel Alvarez, Jayanthi Chandar, Marissa Defreitas, Gaetano Ciancio
BMC Pediatr. 2024; 24: 823. Published online 2024 Dec 19. doi: 10.1186/s12887-024-05304-x
PMCID:
PMC11657740
5.
Rong Ren, Yedan Liu, Peipei Liu, Jing Zhao, Mei Hou, Shuo Li, Zongbo Chen, Aiyun Yuan
BMC Med Genomics. 2024; 17: 290. Published online 2024 Dec 18. doi: 10.1186/s12920-024-02065-5
PMCID:
PMC11657243
6.
Yue Huang, Kristy L. Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V. Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y. Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Jill A. Rosenfeld, Christina G.S. Palmer, Stanley F. Nelson, Michael F. Wangler, Julian A. Martinez-Agosto
Genet Med.
Published in final edited form as: Genet Med. 2024 Nov; 26(11): 101218. Published online 2024 Jul 19. doi: 10.1016/j.gim.2024.101218
PMCID:
PMC11648989
7.
Pablo Garcia‐Pavia, Thibaud Damy, Nicolas Piriou, Roberto Barriales‐Villa, Francesco Cappelli, Catherine Bahus, Carmen Munteanu, Denis Keohane, Pablo Mallaina, Perry Elliott, the TTRACK investigators
ESC Heart Fail. 2024 Dec; 11(6): 4314–4324. Published online 2024 Aug 29. doi: 10.1002/ehf2.14971
PMCID:
PMC11631301
8.
Haozheng Zhang, Limei Yuan, Meili Fan, Zhaotian Liu, Yuxi Yan, Qinghua Liu, Kaihui Zhang, Chunmiao Li, Deyao Liu
Medicine (Baltimore) 2024 Dec 6; 103(49): e40923. Published online 2024 Dec 6. doi: 10.1097/MD.0000000000040923
PMCID:
PMC11631005
9.
Yunli Pang, Xiangbin Ruan, Wei Liu, Lin Hou, Bin Yin, Pengcheng Shu, Xiaozhong Peng
Int J Biol Sci. 2024; 20(15): 6207–6221. Published online 2024 Nov 11. doi: 10.7150/ijbs.94739
PMCID:
PMC11628341
10.
Wei Jiang, Jian Zhang, Molin Wang, Yongxin Zou, Qiao Liu, Yu Song, Gongping Sun, Yaoqin Gong, Fan Zhang, Baichun Jiang
Acta Neuropathol Commun. 2024; 12: 188. Published online 2024 Dec 4. doi: 10.1186/s40478-024-01903-y
PMCID:
PMC11619648
11.
Jae Won Kim, Sook-Young Kim, Donghun Lee
BMC Ophthalmol. 2024; 24: 524. Published online 2024 Dec 5. doi: 10.1186/s12886-024-03791-1
PMCID:
PMC11619142
12.
F. Romero-Bueno, P. Diaz del Campo, E. Trallero-Araguás, J.C. Ruiz-Rodríguez, I. Castellvi, M.J. Rodriguez-Nieto, M.J. Martínez-Becerra, O. Sanchez-Pernaute, I. Pinal-Fernandez, X. Solanich, T. Gono, M.A. Gonzalez-Gay, M.N. Plana, A. Selva-O’Callaghan
Semin Arthritis Rheum.
Published in final edited form as: Semin Arthritis Rheum. 2020 Aug; 50(4): 776–790. Published online 2020 Jun 1. doi: 10.1016/j.semarthrit.2020.03.007
PMCID:
PMC11616672
13.
Marissa Loh, Tamar Schildkraut, Angela Byrnes, Nikki Gelfand, Lucy Gugasyan, Ari E. Horton, Matthew F. Hunter, Samar Ojaimi
Intern Med J. 2024 Dec; 54(12): 2015–2026. Published online 2024 Oct 19. doi: 10.1111/imj.16534
PMCID:
PMC11610662
14.
Sawako Furukawa, Shusei Arafuka, Hidekazu Kato, Tomoo Ogi, Norio Ozaki, Masashi Ikeda, Itaru Kushima
Neuropsychopharmacol Rep. 2024 Dec; 44(4): 847–851. Published online 2024 Aug 27. doi: 10.1002/npr2.12477
PMCID:
PMC11609749
15.
Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, Yoshihiro Kita, Tsukasa Sanosaka, Jun Kohyama, Kenji Kurosawa, Norio Sakai, Fuyuki Miya, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
Congenit Anom (Kyoto) 2025 Jan-Dec; 65(1): e12587. Published online 2024 Dec 1. doi: 10.1111/cga.12587
PMCID:
PMC11608845
16.
Chioma N. P. Mbachu, Randi Hagerman, Edwin Eseigbe, Amalachukwu Odita, Ikechukwu Mbachu, Samuel Ilikanu, Kasarachi Akowundu, Chizalu Ndukwu, Malachy Echezona, Onyedikachi Okereke, Sylvia Echendu, Ifeoma Udigwe
Clin Genet. 2025 Jan; 107(1): 56–66. Published online 2024 Sep 18. doi: 10.1111/cge.14619
PMCID:
PMC11608841
17.
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
18.
Antonia M. Stehr, Jerica Lenberg, Jennifer Friedman, Dries Dobbelaere, Apolline Imbard, Jonathan Levy, Sarah Donoghue, Nicolas Derive, Radka Stoeva, Paul Gueguen, Michael Zech
Clin Genet. 2025 Jan; 107(1): 91–97. Published online 2024 Oct 5. doi: 10.1111/cge.14622
PMCID:
PMC11608835
19.
Jurjen Versluis, Marlen Metzner, Ariel Wang, Patrycja Gradowska, Abin Thomas, Niels Asger Jakobsen, Alison Kennedy, Rachel Moore, Emma Boertjes, Christian M. Vonk, Francois G. Kavelaars, Melissa Rijken, Amanda Gilkes, Claire Schwab, H. Berna Beverloo, Markus Manz, Otto Visser, Catharina H.M.J. Van Elssen, Okke de Weerdt, Lidwine W. Tick, Bart J. Biemond, Marie-Christiane Vekemans, Sylvie D. Freeman, Christine J. Harrison, Jonathan A. Cook, Mike Dennis, Steven Knapper, Ian Thomas, Charles Craddock, Gert J. Ossenkoppele, Bob Löwenberg, Nigel Russell, Peter J.M. Valk, Paresh Vyas
J Clin Oncol. 2024 Dec 1; 42(34): 4084–4094. Published online 2024 Sep 4. doi: 10.1200/JCO.23.02631
PMCID:
PMC11608593
20.
Allen Yen, Simona Sarafinovska, Xuhua Chen, Dominic D. Skinner, Fatjon Leti, MariaLynn Crosby, Jessica Hoisington-Lopez, Yizhe Wu, Jiayang Chen, Zipeng A. Li, Kevin K. Noguchi, Robi D. Mitra, Joseph D. Dougherty
Nat Commun. 2024; 15: 10308. Published online 2024 Nov 27. doi: 10.1038/s41467-024-54371-2
PMCID:
PMC11603064

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