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121-130 trong số 316 kết quả
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: 
 
Habitual caffeine intake, genetics and cognitive performance
Tác giả: Angeliki Kapellou, Leta Pilic, Yiannis Mavrommatis
Xuất bản: United States: Journal of psychopharmacology (Oxford, England , 2025
Bộ sưu tập: NCBI
ddc: 
 
Advances in retina genetics: Progress, potential, and challenges
Tác giả: Mayank Bansal
Xuất bản: India: Indian journal of ophthalmology , 2025
Bộ sưu tập: NCBI
ddc: 
 
Development and preliminary evaluation of a genetics education booklet for retinoblastoma
Tác giả: Taylor Irvine, Monica Brundage, Ashna Hudani, Joy Kabiru, Kahaki Kimani, Festus Njuguna, Lucy Njambi, Helen Dimaras
Xuất bản: United States: Journal of genetic counseling , 2025
Bộ sưu tập: NCBI
ddc: 
 
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connecti...
Tác giả: Olivia Abegglen, Shajanth Srikantharupan, Kathrin Zotter, Giulio Marcionelli, Timothée Ndarugendamwo, Pei Jin Lim, Cecilia Giunta, Christina Kaufman, Marianne Rohrbach
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc: 
 
Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phe...
Tác giả: Sophie van Rijn, Kimberly Kuiper, Hanna Swaab
Xuất bản: United States: American journal of medical genetics. Part A , 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: 
 

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