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Tìm được 31 kết quả
Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank
Tác giả: Nitikorn Poriswanish, James Eales, Xiaoguang Xu, David Scannali, Rita Neumann, Jon H Wetton, Maciej Tomaszewski, Mark A Jobling, Celia A May
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  513.213
 
Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network
Tác giả: Darcy T Ahern, Prakhar Bansal, Isaac V Faustino, Owen M Chambers, Erin C Banda, Heather R Glatt-Deeley, Rachael E Massey, Yuvabharath Kondaveeti, Stefan F Pinter
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  623.822
 
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:  302.542
 
Contribution of autosomal rare and de novo variants to sex differences in autism
Tác giả: Mahmoud Koko, F Kyle Satterstrom, Varun Warrier, Hilary Martin
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  363.73875
 
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila
Tác giả: Holly J Thorpe, Brent S Pedersen, Miranda Dietze, Nichole Link, Aaron R Quinlan, Joshua L Bonkowsky, Ashley Thomas, Clement Y Chow
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  230.0071
 
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:  306.4846
 
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:  109
 
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:  025.30285574
 
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:  553.453
 
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:  615.534
 
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