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21-29 trong số 29 kết quả
Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease
Tác giả: Lei Fang, Haoran Xue, Zhaotong Lin, Wei Pan
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Res...
Tác giả: Alice B Popejoy, Deborah I Ritter, Erin M Ramos, Heidi L Rehm, Erin R Riggs, Matthew W Wright, Michael Yudell, Sharon E Plon, Joannella Morales, Danielle Azzariti, Jonathan S Berg, Joanna E Bulkley, Mildred Cho, Claudia Gonzaga-Jauregui, Teri E Klein, Daphne O Martschenko, Akinyemi Oni-Orisan
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
Tác giả: Wolfram Höps, Marjan M Weiss, Xiao Chen, Arthur van den Wijngaard, Michael A Eberle, Helger G Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E L M Vissers, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos Smits, Tom Mokveld, Egor Dolzhenko
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
No evidence for sex-differential transcriptomes driving genome-wide sex-differential natural selection
Tác giả: Matthew J Ming, Changde Cheng, Mark Kirkpatrick, Arbel Harpak
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Functional characterization of eQTLs and asthma risk loci with scATAC-seq across immune cell types and contexts
Tác giả: Julong Wei, Justyna A Resztak, Ali Ranjbaran, Adnan Alazizi, Henriette E Mair-Meijers, Richard B Slatcher, Samuele Zilioli, Xiaoquan Wen, Francesca Luca, Roger Pique-Regi
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Tác giả: Karim Karimi, Yael Lichtenstein, Thomas Smol, Katie Clarkson, Katy Drazba, Raymond J Louie, Valancy Miranda, Cathleen McCann, Jamie Motta, Emily Lancaster, Suzanne Sallevelt, Richard Sidlow, Jack Reilly, Jennifer Morrison, Mark Hannibal, Jessica O'Shea, Victor Marin, Chitra Prasad, Chirag Patel, Salmo Raskin, Seco Moro Maria-Noelia, Aranzazú Diaz de Bustamante, Daphna Marom, Haley McConkey, Tali Barkan, Boris Keren, Celine Poirsier, Lior Cohen, Estelle Colin, Kathleen Gorman, Emily Gallant, Leonie A Menke, Irene Valenzuela Palafoll, Natalie Hauser, Raissa Relator, Ingrid M Wentzensen, Julia Rankin, Peter D Turnpenny, Philippe M Campeau, Tugce B Balci, Matthew L Tedder, Bekim Sadikovic, Karin Weiss, Michael A Levy, Jennifer Kerkhof, Arjan Bouman, Joseph D Symonds, Jamal Ghoumid
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Characterizing substructure via mixture modeling in large-scale genetic summary statistics
Tác giả: Hayley R Stoneman, Adelle M Price, Katie M Marker, Audrey E Hendricks, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita Pozdeyev, Kristy Crooks, Meng Lin, Nicholas Rafaels, Christopher R Gignoux
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data
Tác giả: Xinyi Yu, Xianghong Hu, Xiaomeng Wan, Zhiyong Zhang, Xiang Wan, Mingxuan Cai, Tianwei Yu, Jiashun Xiao
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilep...
Tác giả: Rebecca Buchert, Martin D Burkhalter, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Chrisovalantou Huridou, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E Bonnen, Reza Maroofian, Linda Sofan, Olaf Riess, Jonasz J Weber, Melanie Philipp, Tobias B Haack, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 

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