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Tìm được 13 kết quả
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial
Tác giả: Kristine Barlow-Stewart, Eliza Courtney, Mitali Manzur, Chelsea Mayoh, Dianne Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Mark Cowley, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial
Tác giả: Kristine Barlow-Stewart, Eliza Courtney, Mitali Manzur, Chelsea Mayoh, Dianne Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Mark Cowley, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Tác giả: Elan Hahn, Avinash V Dharmadhikari, Matthew A Deardorff, Jaclyn A Biegel, Xiaowu Gai, Miao Sun, Ryan J Schmidt, Gordana Raca, Jianling Ji, Alexander L Markowitz, Dolores Estrine, Catherine Quindipan, Simran D S Maggo, Ankit Sharma, Brian Lee, Dennis T Maglinte, Soheil Shams
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplant...
Tác giả: Lu Jiang, Zhuoyao Mai, Nengyong Ouyang, Chao Chen, Ping Yuan, Jiguang Peng, Tao Du, Weifeng Wang, Xiran Chen, Chen Jiang, Yantao Luo, Hui Chen, Lijie Song
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome
Tác giả: Serena Cappato, Maria Teresa Divizia, Federico Zara, Renata Bocciardi, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
Tác giả: Ana Marta, Pedro Marques-Couto, João Melo Beirão, Célia Azevedo Soares, Ana Luísa Carvalho, João Pedro Marques, Sara Vaz-Pereira, José Costa, Diogo Cabral, Sérgio Estrela-Silva, Maria Franca, João Heitor Marques, Maria João Menéres, Carolina Lemos
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics
Tác giả: Guang Yang, Pablo González, Abiel Roche-Lima, Cristina Alarcon, Marylyn D Ritchie, Minoli A Perera, Jorge Duconge, Mariangeli Moneró, Kelvin Carrasquillo, Jessicca Y Renta, Dagmar F Hernandez-Suarez, Mariana R Botton, Kyle Melin, Stuart A Scott, Gualberto Ruaño
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Tác giả: Lieselot Vincke, Kristof Van Schil, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Hamid Ahmadieh, Elfride De Baere, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
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: 
 
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: 
 
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