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11-16 trong số 16 kết quả
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
Tác giả: A Papadopoulou, T L Assimes, J E Below, S I Berndt, D Carrell, G Chittoor, D Crosslin, P Deloukas, O Dikilitas, I Dinsmore, D R V Edwards, C R Gignoux, M Graff, H Hakonarson, M G Hayes, J N Hirschhorn, I A Holm, G P Jarvik, N S Josyula, A E Justice, K Kiryluk, I J Kullo, M Lin, E M Litkowski, R J F Loos, E Marouli, F D Mentch, K E North, S Raghavan, J Shortt, R A J Smit, Y V Sun, S L Vedantam, Z Wang, W -Q Wei, C Weng, A R Wood, L Yengo, W Zhu
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  025.523
 
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in...
Tác giả: Katherine B Howell, Nancy C Andrews, Alan H Beggs, Vann Chau, Lyn S Chitty, John Christodoulou, Ronald D Cohn, Gregory Costain, J Helen Cross, Andrew Davidson, Alissa M D'Gama, Christian R Marshall, Amy McTague, Kathryn N North, Annapurna Poduri, Ingrid E Scheffer, Stephen W Scherer, Neil Sebire, Piotr Sliz, Lindsay D Smith, Sarah E M Stephenson, Susan M White, Monica Wojcik
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  514.74
 
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease coho...
Tác giả: Sek Won Kong, Lauren V Collen, Michael Field, In-Hee Lee, Kenneth D Mandl, Arjun K Manrai, Scott B Snapper
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  006.31
 
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis
Tác giả: Qian Sun, Peiwen Xu, Dayong Si, Junhao Yan, Zi-Jiang Chen, Xuan Gao, Yuan Gao, Aiping Mao, Sexin Huang, Jie Li, Libao Chen, Jing Li, Haopeng Kan, Ju Huang, Wenkai Ji
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  610.736
 
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome
Tác giả: Hui-Zi Chen, Na Hyun Kim, Daisuke Nishizaki, Mary K Nesline, Jeffrey M Conroy, Paul DePietro, Sarabjot Pabla, Shumei Kato, Razelle Kurzrock
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  220.5201
 
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Tác giả: Tomer Poleg, Noam Hadar, John Christodoulou, Bruria Ben-Zeev, Ohad S Birk, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M Jean, Ofek Freund, Simran Kaur
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  320.4
 

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