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11-20 trong số 29 kết quả
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implemen...
Tác giả: Shona M Kerr, Lucija Klaric, Prisca K Thami, James S Ware, Gannie Tzoneva, Alan R Shuldiner, Zosia Miedzybrodzka, James F Wilson, Marisa D Muckian, Kiera Johnston, Camilla Drake, Mihail Halachev, Emma Cowan, Lesley Snadden, John Dean, Sean L Zheng
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms
Tác giả: Ali H Bereshneh, Jonathan C Andrews, Mustafa Tekin, Hugo J Bellen, Oguz Kanca, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Stephanie Bivona, Wendy K Chung, Shinya Yamamoto, Michael F Wangler, Shane McKee
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Tác giả: Shloka Negi, Sarah L Stenton, Elizabeth Carbonell, Christina Austin-Tse, Gabrielle Lemire, Jillian Serrano, Brian Mangilog, Grace VanNoy, Mikhail Kolmogorov, Eric Vilain, Anne O'Donnell-Luria, Emmanuèle Délot, Seth I Berger, Karen H Miga, Jean Monlong, Benedict Paten, Paolo Canigiula, Brandy McNulty, Ivo Violich, Joshua Gardner, Todd Hillaker, Sara M O'Rourke, Melanie C O'Leary
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Prenatal gene editing for neurodevelopmental diseases: Ethical considerations
Tác giả: Rami M Major, Eric T Juengst
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Gene and phenome-based analysis of the shared genetic architecture of eye diseases
Tác giả: Alexandra Scalici, Tyne W Miller-Fleming, Megan M Shuey, James T Baker, Michael Betti, Jibril Hirbo, Ela W Knapik, Nancy J Cox
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Population history and admixture of the Fulani people from the Sahel
Tác giả: Cesar A Fortes-Lima, Mame Y Diallo, Václav Janoušek, Viktor Černý, Carina M Schlebusch
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
The expanding global genomics landscape: Converging priorities from national genomics programs
Tác giả: Caitlin Howley, Matilda A Haas, Tiffany Boughtwood, Wadha A Al Muftah, Robert B Annan, Eric D Green, Bettina Lundgren, Richard H Scott, Zornitza Stark, Patrick Tan, Kathryn N North
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
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: 
 
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: 
 

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