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111-120 trong số 316 kết quả
Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils
Tác giả: G Priyadarshini, A Dhinesh, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Medha Rajappa
Xuất bản: England: Journal of applied genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders
Tác giả: Jie Dong, Zhichuan Zou, Wenhua Wang, Li Chen, Rujun Ma, Xie Ge, Jun Jing, Jinzhao Ma, Bing Yao
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
Tác giả: Emmanuelle Szenker-Ravi, Tim Ott, Nabila Djaziri, Naif A M Almontashiri, Malak Ali Alghamdi, Essa Alharby, Majed Dasouki, Lindsay Romo, Wen-Hann Tan, Sateesh Maddirevula, Fowzan S Alkuraya, Jessica L Giordano, Amirah Yusof, Anna Alkelai, Ronald J Wapner, Karen Stals, Majid Alfadhel, Abdulrahman Faiz Alswaid, Susanne Bogusch, Anna Schafer-Kosulya, Sebastian Vogel, Philipp Vick, Axel Schweickert, Maya Chopra, Matthew Wakeling, Anne Moreau de Bellaing, Aisha M Alshamsi, Damien Sanlaville, Hamdi Mbarek, Chadi Saad, Sian Ellard, Frank Eisenhaber, Kornelia Tripolszki, Christian Beetz, Muznah Khatoo, Peter Bauer, Achim Gossler, Birgit Eisenhaber, Martin Blum, Patrice Bouvagnet, Aida Bertoli-Avella, Jeanne Amiel, Christopher T Gordon, Bruno Reversade, Beatrice Pak, Wei Xuan Goh, Anja Beckers, Angela F Brady, Lisa J Ewans
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Characterizing features affecting local ancestry inference performance in admixed populations
Tác giả: Jessica Honorato-Mauer, Nirav N Shah, Adam X Maihofer, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
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: 
 

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