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21-30 trong số 122 kết quả
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:  617.51
 
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:  794.147
 
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:  232.964
 
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:  978.02
 
Distinct explanations underlie gene-environment interactions in the UK Biobank
Tác giả: Arun Durvasula, Alkes L Price
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  152.324
 
An evolving understanding of multiple causal variants underlying genetic association signals
Tác giả: Erping Long, Jacob Williams, Haoyu Zhang, Jiyeon Choi
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  248.8085
 
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Tác giả: Meltem Ece Kars, David Stein, Yuval Itan, Peter D Stenson, David N Cooper, Wendy K Chung, Peter J Gruber, Christine E Seidman, Yufeng Shen, Martin Tristani-Firouzi, Bruce D Gelb
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  620.11245
 
Genetic association studies using disease liabilities from deep neural networks
Tác giả: Lu Yang, Marie C Sadler, Russ B Altman
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  622.77
 
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit m...
Tác giả: Evon DeBose-Scarlett, Andrew K Ressler, Marie E Faughnan, Douglas A Marchuk, Carol J Gallione, Gonzalo Sapisochin Cantis, Cassi Friday, Shantel Weinsheimer, Katharina Schimmel, Edda Spiekerkoetter, Helen Kim, James R Gossage
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  599.759
 
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Tác giả: María Del Rocío Pérez Baca, Elke Bogaert, Bert Callewaert, Laurenz De Cock, Eva D'haene, Erika D'haenens, Annelies Dheedene, Sixto García-Miñaúr, Gaia Gestri, Lisa Hamerlinck, Eva Z Jacobs, Sebastian Leimbacher, Roser Lleuger-Pujol, Itsaso Losantos-García, Zoë Malfait, Björn Menten, Thomas Naert, Nichole Marie Owen, María Palomares-Bralo, Nicola Ragge, Kathleen Rooney, Bekim Sadikovic, Amir Hossein Saeidian, Fernando Santos-Simarro, Ananilia Silva, Delfien Syx, Michiel Vanhooydonck, Lies Vantomme, Sarah Vergult, Kris Vleminckx, Xiaonan Zhao
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 

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