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11-20 trong số 42 kết quả
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Tác giả: Nora Scherer, Daniel Fässler, Heike Meiselbach, Casper Wong, Urs Berger, Peggy Sekula, Anselm Hoppmann, Ulla T Schultheiss, Sahar Mozaffari, Yannan Xi, Robert Graham, Miriam Schmidts, Oleg Borisov, Michael Köttgen, Peter J Oefner, Felix Knauf, Kai-Uwe Eckardt, Sarah C Grünert, Karol Estrada, Ines Thiele, Johannes Hertel, Anna Köttgen, Yurong Cheng, Pascal Schlosser, Matthias Wuttke, Stefan Haug, Yong Li, Fabian Telkämper, Suraj Patil
Xuất bản: United States: Nature genetics , 2025
Bộ sưu tập: NCBI
ddc:  794.147
 
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Tác giả: Ed M Dicks, Jonthan P Tyrer, Toon Van Gorp, Anna De Fazio, David D L Bowtell, Dale W Garsed, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Florentia Fostira, Penelope M Webb, Jana Soukupová, Suzana Ezquina, Paul A Cohen, Weiva Sieh, Renée Turzanski Fortner, Charite Ricker, Beth Karlan, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  006.35
 
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk
Tác giả: Elaine Gy Chew, Zhehao Liu, Tiak Ju Tan, Esther Kl Peh, Ying Swan Ho, Xiao Yin Chen, Erin Yt Lim, Chu Hua Chang, Jonavan J Leong, Ting Xuan Peh, Ling Ling Chan, Yinxia Chao, Zheng Li, Wing-Lok Au, Kumar M Prakash, Jia Lun Lim, Yi Wen Tay, Vincent Mok, Anne Yy Chan, Juei-Jueng Lin, Beom S Jeon, Kyuyoung Song, Clement C Tham, Sun Ju Chung, Chi Pui Pang, Jeeyun Ahn, Kyu Hyung Park, Janey L Wiggs, Tin Aung, Ai Huey Tan, Azlina Ahmad Annuar, Mary B Makarious, Cornelis Blauwendraat, Mike A Nalls, Michelle M Lian, Laurie A Robak, Roy N Alcalay, Ziv Gan-Or, Richard Reynolds, Shen-Yang Lim, Yun Xia, Chiea Chuen Khor, Eng-King Tan, Zhenxun Wang, Jia Nee Foo, Moses Tandiono, Yue Jing Heng, Ebonne Y Ng, Louis Cs Tan, Wee Ling Chng
Xuất bản: United States: Nature aging , 2025
Bộ sưu tập: NCBI
ddc:  551.64
 
Whole exome sequencing of low risk endometrial cancer patients with isolated local recurrences
Tác giả: Shuhua Zheng, Yirong Liu, Paul D Kinkopf, Amulya Yalamanchili, Jonathan B Strauss, Eric D Donnelly
Xuất bản: England: Cancer treatment and research communications , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Tác giả: Michal Levy, Shira Lifshitz, Mirela Goldenberg-Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat
Xuất bản: England: Prenatal diagnosis , 2025
Bộ sưu tập: NCBI
ddc:  353.5331
 
Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis
Tác giả: Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen
Xuất bản: United States: Acta obstetricia et gynecologica Scandinavica , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 
Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis
Tác giả: Chang Liu, Yanlin Huang, Xingwang Wang, Fangfang Guo, Ying Xiong, Xin Zhao, Liyuan Fang, Juan Geng, Anpeng Fu, Jing Wu, Aihua Yin, Yunan Wang, Yan Zhang, Li Du, Lihua Yu, Hongke Ding, Fake Li, Yiming Qi, Yuan Liu
Xuất bản: England: QJM : monthly journal of the Association of Physicians , 2025
Bộ sưu tập: NCBI
ddc:  001.944
 
Clinical utility of prenatal exome sequencing for isolated short long bones and isolated small-for-gestational age
Tác giả: B Jordan, S Allen, S A Graham, V Harrison
Xuất bản: England: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology , 2025
Bộ sưu tập: NCBI
ddc:  333.822
 
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
Tác giả: Kosuke Taniguchi, Fuyuki Hasegawa, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata, Yuka Okazaki, Asuka Hori, Hiroko Ogata-Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma
Tác giả: Aitana Avendaño Pomares, Laura Rodríguez Merino, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero
Xuất bản: United States: PloS one , 2025
Bộ sưu tập: NCBI
ddc:  230.071
 

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