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31-40 trong số 112 kết quả
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: 
 
Assessing the clinical value of day 7 blastocysts: a predictive model for preimplantation genetic testing for aneuploidy...
Tác giả: Andrea Abdala, Erkan Kalafat, Ibrahim Elkhatib, Aşina Bayram, Bariş Ata, Laura Melado, Barbara Lawrenz, Human M Fatemi, Daniela Nogueira
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovari...
Tác giả: Ed M Dicks, Jonthan P Tyrer, Toon Van Gorp, Anna De Fazio, David D L Bowtell, Dale W Garsed, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Florentia Fostira, Penelope M Webb, Jana Soukupová, Suzana Ezquina, Paul A Cohen, Weiva Sieh, Renée Turzanski Fortner, Charite Ricker, Beth Karlan, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansio...
Tác giả: Koen C Demaegd, Aoife Kernan, Patrick A Dion, Guy A Rouleau, Andrea Western, Paul J Parsons, Benjamin Mclean, Michael Benatar, Leonard H van den Berg, Philip Van Damme, Jan Willem Dankbaar, Jeroen Hendrikse, Johnathan Cooper-Knock, Wouter Koole, Charlotte de Bie, Esther Hobson, Jan H Veldink, Bart van de Warrenburg, R Jeroen Pasterkamp, Wouter van Rheenen, Janine Kirby, Pamela J Shaw, Michael A van Es, Joke J F A van Vugt, Calum Harvey, Tobias Moll, David O'Brien, Sarah Gornall, Luke Drury, Sali M K Farhan
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process
Tác giả: Anneke Lucassen, Rachel Horton
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Towards a patient-centred classification of genetic disease severity
Tác giả: Mojca Cizek Sajko, Lovro Vidmar, Bernarda Prosenc, Brigita Grum, Gordana Njenjic, Borut Peterlin
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 

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