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Tìm được 14 kết quả
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6
Tác giả: Blaine A Bates, Kylee E Bates, Spencer A Boris, Colin Wessman, David Stone, Justin Bryan, Mary F Davis, Matthew H Bailey
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
A proposed role for CDO1 in central nervous system development: Three children with rare missense variants and a neurolo...
Tác giả: Leah Rowe, Sureni V Mullegama, Hong Cui, Amy E Dameron, Leandra Folk, Maria J Guillen Sacoto, Jane Juusola, Olivia L Redlich, Adi Reich, Bobbi McGivern, Rachel Lombardo, Caitlin Barnes, Shelley Towner, Matthew T Snyder, Alexis Heidlebaugh, Heather Riordan, Amber Begtrup, Amy Crunk
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease
Tác giả: Jonathan Marquez, Stephen Viviano, Erika Beckman, Jenny Thies, Joshua Friedland-Little, Christina T Lam, Engin Deniz, Emily Shelkowitz
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Response to Karp-Tatham et al
Tác giả: Astrid Marchal, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL
Tác giả: Elizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, Jialan Ma, Grace E VanNoy, Lynn Pais, John N Gaitanis, Melanie C O'Leary, Heidi L Rehm, Anne O'Donnell-Luria
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects
Tác giả: Carolina G Downie, Poojan Shrestha, Navya Shilpa Josyula, Sheila Gahagan, Estela Blanco, Raquel Burrows, Paulina Correa-Burrows, Cecilia Albala, José L Santos, Bárbara Angel, Betsy Lozoff, Fernando Pires Hartwig, Samson Okello, Bernardo Horta, Karisa Roxo Brina, Carmen R Isasi, Qibin Qi, Linda C Gallo, Krista M Perreira, Bharat Thyagarajan, Martha Daviglus, Linda Van Horn, Franklyn Gonzalez, Mohammad Yaser, Jonathan P Bradfield, Hakon Hakonarson, Struan F A Grant, Jennifer E Below, Janine Felix, Mariaelisa Graff, Kimon Divaris, Kari E North, Harold H Lee, Yujie Wang, Mohanraj Krishnan, Hung-Hsin Chen, Anne E Justice, Geetha Chittoor
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Unbiased causal inference with Mendelian randomization and covariate-adjusted GWAS data
Tác giả: Peiyao Wang, Zhaotong Lin, Wei Pan
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Unraveling the genetic landscape of susceptibility to multiple primary cancers
Tác giả: Pooja Middha, Linda Kachuri, Stephen Van Den Eeden, Lawrence H Kushi, Elad Ziv, Lori C Sakoda, John S Witte, Jovia L Nierenberg, Rebecca E Graff, Taylor B Cavazos, Thomas J Hoffmann, Jie Zhang, Stacey Alexeeff, Laurel Habel, Douglas A Corley
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot...
Tác giả: Qiongfen Lin, Detao Zhang, Peter J Gruber, Paul Kwong-Hang Tam, Vincent Chi-Hang Lui, Zhongluan Wu, Haifa Hong, Kenneth R Chien, Pak Chung Sham, Clara Sze-Man Tang
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review
Tác giả: Hridya Rao, Margaret C Weiss, Jee Young Moon, Krista M Perreira, Martha L Daviglus, Robert Kaplan, Kari E North, Maria Argos, Lindsay Fernández-Rhodes, Tamar Sofer
Xuất bản: United States: HGG advances , 2025
Bộ sưu tập: NCBI
ddc: 
 
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