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Tìm được 33 kết quả
Exome sequencing identifies novel genes associated with cerebellar volume and microstructure
Tác giả: Yuanyuan Liang, Ole A Andreassen, Yanmei Feng, Chenwei Hao, Xiaoyan Hao, Mengjie Li, Shuangjie Li, Dongrui Ma, Shasha Qi, Changhe Shi, Shilei Sun, Yuemeng Sun, Yunpeng Wang, Zhiyun Wang, Yu-Ming Xu, Chunyan Zuo
Xuất bản: England: Communications biology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
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
 
Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts
Tác giả: Matheus de Mello Copelli, Milena Atique-Tacla, Eleonore Pairet, Gabriela Roldão Correia-Costa, Tiago Henrique de Souza, Isabella Lopes Monlleó, Társis Paiva Vieira, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
Xuất bản: Scotland: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
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
 
Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta-analysis
Tác giả: A Sotiriadis, E Demertzidou, A Ververi, E Tsakmaki, C Chatzakis, F Mone
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:  070.48346
 
Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis
Tác giả: Leyla Ozer, Hande Koksal
Xuất bản: Germany: Clinical rheumatology , 2025
Bộ sưu tập: NCBI
ddc:  794.147
 
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
 
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