Loại tài liệu:    Chỉ tìm trong: 
351-360 trong số 897 kết quả
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
 
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups
Tác giả: Sue-Rica Schneider, Johannes Jacobus Spies, Paul Janus Pretorius, Renate Rebello, Errol Duncan Cason
Xuất bản: Netherlands: European journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  333.8232
 
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2
Tác giả: Sabrina Kubinski, Luisa Claus, Niko Hensel, Tobias Schüning, Andre Zeug, Norman Kalmbach, Selma Staege, Thomas Gschwendtberger, Susanne Petri, Florian Wegner, Peter Claus
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  333.8232
 
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:  302.222
 
Genome-wide association analysis using multiple Atlantic salmon populations
Tác giả: Afees A Ajasa, Hans M Gjøen, Solomon A Boison, Marie Lillehammer
Xuất bản: France: Genetics, selection, evolution : GSE , 2025
Bộ sưu tập: NCBI
ddc:  629.134352
 
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
 
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:  343.0924
 

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