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Links from MedGen

Items: 1 to 20 of 500

1.
Aaron A. Jensen, Saba Firdous, Lei Lei, Derek J. Fisher, Scot P. Ouellette
mBio. 2025 Jan; 16(1): e02870-24. Published online 2024 Nov 22. doi: 10.1128/mbio.02870-24
PMCID:
PMC11708050
2.
Mariko Noda, Ayumi Matsumoto, Hidenori Ito, Masayo Kagami, Toshihiro Tajima, Takayoshi Matsumura, Takanori Yamagata, Koh-ichi Nagata
Sci Rep. 2024; 14: 31911. Published online 2024 Dec 30. doi: 10.1038/s41598-024-83445-w
PMCID:
PMC11686380
3.
Yi-Ting Chen, Ming-Ming Jiang, Carolina Leynes, Mary Adeyeye, Camilla F. Majano, Barakat Ibrahim, Urszula Polak, George Hung, Zixue Jin, Denise G. Lanza, Lan Liao, Brian Dawson, Yuqing Chen-Evenson, Oscar E. Ruiz, Richard J. Gibbons, Jason D. Heaney, Yangjin Bae, Brendan Lee
J Clin Invest. 2025 Jan 2; 135(1): e163587. Published online 2025 Jan 2. doi: 10.1172/JCI163587
PMCID:
PMC11684799
4.
Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, Muhammad Mahajnah, Radka Stoeva, Agnès Guichet, Estelle Colin, Jérome Champ, Nicolas Derive, Arnaud Chefdor, Abdelnaser Zalan
Genes (Basel) 2024 Dec; 15(12): 1508. Published online 2024 Nov 25. doi: 10.3390/genes15121508
PMCID:
PMC11675358
5.
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo
Cells. 2024 Dec; 13(24): 2100. Published online 2024 Dec 18. doi: 10.3390/cells13242100
PMCID:
PMC11674747
6.
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
7.
Siddhi S. Ozarkar, Ridthi K.-R. Patel, Tasmai Vulli, Audrey L. Smith, Martin A. Styner, Li-Ming Hsu, Sung-Ho Lee, Yen-Yu Ian Shih, Heather C. Hazlett, Mark D. Shen, Alain C. Burette, Benjamin D. Philpot
Mol Autism. 2024; 15: 54. Published online 2024 Dec 26. doi: 10.1186/s13229-024-00636-y
PMCID:
PMC11670556
8.
Tara Weixel, Dee Adedipe, Glennis Muldoon, Christina Lam, Donna Krasnewich, Audrey Thurm, Lynne Wolfe
J Inherit Metab Dis. 2025 Jan; 48(1): e12782. Published online 2024 Aug 6. doi: 10.1002/jimd.12782
PMCID:
PMC11670447
9.
Dan Tang, Ai Chen, Jing Xu, Yu Huang, Jun Fan, Jin Wang, Hui Zhu, Guanghuan Pi, Li Yang, Fu Xiong, Zemin Luo, Gen Li, Lan Zeng, Shuyao Zhu
BMC Med Genomics. 2024; 17: 294. Published online 2024 Dec 23. doi: 10.1186/s12920-024-02059-3
PMCID:
PMC11667835
10.
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
11.
Anthony S. H. Kan, Ali S. Kusay, Nazanin A. Mohammadi, Susan X. N. Lin, Vivian W. Y. Liao, Gaetan Lesca, Sabrine Souci, Mathieu Milh, Palle Christophersen, Mary Chebib, Rikke S. Møller, Nathan L. Absalom, Anders A. Jensen, Philip K. Ahring
Proc Natl Acad Sci U S A. 2024 Dec 10; 121(50): e2413011121. Published online 2024 Dec 6. doi: 10.1073/pnas.2413011121
PMCID:
PMC11648851
12.
Yunjiao Li, Zecheng Li, Hongmei Ran, Zihan Fan, Fan Yang, Hu Chen, Bo Zhou
Int J Mol Sci. 2024 Dec; 25(23): 12813. Published online 2024 Nov 28. doi: 10.3390/ijms252312813
PMCID:
PMC11641175
13.
Vidya Jadhav, Maria Isabel Carreno-Munoz, Pegah Chehrazi, Jacques L. Michaud, Bidisha Chattopadhyaya, Graziella Di Cristo
J Neurosci. 2024 Dec 4; 44(49): e0946242024. Prepublished online 2024 Oct 15. doi: 10.1523/JNEUROSCI.0946-24.2024
PMCID:
PMC11622180
14.
Venkateshwarlu Bandi, Martin Rennie, Intisar Koch, Polly Gill, Oscar D. Pacheco, Aaron D. Berg, Hong Cui, D. Isum Ward, Francisco Bustos
HGG Adv. 2025 Jan 9; 6(1): 100378. Published online 2024 Oct 31. doi: 10.1016/j.xhgg.2024.100378
PMCID:
PMC11617870
15.
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
HGG Adv. 2025 Jan 9; 6(1): 100380. Published online 2024 Nov 4. doi: 10.1016/j.xhgg.2024.100380
PMCID:
PMC11617854
16.
Liyuan Ran, Xiaoshuang Wang, Rui Ma, Haoan Wang, Yingjie Wu, Zichao Yu
Biol Sex Differ. 2024; 15: 98. Published online 2024 Dec 2. doi: 10.1186/s13293-024-00676-2
PMCID:
PMC11610217
17.
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
18.
Jia Cheng Ong, W Mohd Hilmi W Omar, Tuan Salwani Tuan Ismail, Krishna Chatterjee, Suhaimi Hussain
J ASEAN Fed Endocr Soc. 2024; 39(2): 81–85. Published online 2024 Jul 31. doi: 10.15605/jafes.039.02.04
PMCID:
PMC11604371
19.
Benjamin R. Thomas, Natasha N. Ludwig, Danielle Pelletier, Melanie Bauer, Rebecca Hommer, Constance Smith-Hicks, Julia T. O’Connor
J Neurodev Disord. 2024; 16: 66. Published online 2024 Nov 28. doi: 10.1186/s11689-024-09580-7
PMCID:
PMC11603671
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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