Loại tài liệu:    Chỉ tìm trong: 
11-20 trong số 35 kết quả
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
 
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
 
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis
Tác giả: Xiaomei Shi, Yanling Huang, Hongke Ding, Lina Zhao, Wei He, Jing Wu
Xuất bản: England: Annals of medicine , 2025
Bộ sưu tập: NCBI
ddc:  943.03
 
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
 
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
 
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
 
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:  001.944
 
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:  372.475
 
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History
Tác giả: Anna Sadakierska-Chudy, Paweł Szymanowski, Wioletta Katarzyna Szepieniec, Ewa Boniewska-Bernacka, Agnieszka Pollak
Xuất bản: England: International urogynecology journal , 2025
Bộ sưu tập: NCBI
ddc:  526.38
 
Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population
Tác giả: Rui-Lin Liu, Yi-Feng Yang, Ke Gong, Lei Wang, Yao Yao, Li Xie
Xuất bản: England: BMC genomics , 2025
Bộ sưu tập: NCBI
ddc:  133.531
 

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