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21-30 trong số 33 kết quả
Whole exome sequencing uncovers rare variants associated with PCOS susceptibility in Indian women
Tác giả: Medini Samant, Mahalakshmi Bhat, Roshan Dadachanji, Digumarthi V S Sudhakar, Anushree Patil, Srabani Mukherjee
Xuất bản: England: Systems biology in reproductive medicine , 2025
Bộ sưu tập: NCBI
ddc:  523.015
 
Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects
Tác giả: Gloria K E Zodanu, John H Hwang, Ucla Congenital Heart Defects-BioCore Faculty, Wayne W Grody, Gary M Satou, Glen S Van Arsdell, Stanly F Nelson, Marlin Touma, Jordan Mudery, Carlos Sisniega, Xuedong Kang, Lee-Kai Wang, Alexander Barsegian, Reshma M Biniwale, Ming-Sing Si, Nancy J Halnon
Xuất bản: Switzerland: International journal of molecular sciences , 2025
Bộ sưu tập: NCBI
ddc:  171.7
 
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre-Lingual Hearing Loss From South India
Tác giả: Mathuravalli Krishnamoorthy, Chandru Jayasankaran, Sorna Lakshmi, Chodisetty Sarvani, Jeffrey Justin Margret, Subathra Mahalingam, Pavithra Amritkumar, Paridhy Vanniya Subramanyam, Sarrath Rathnaraajan S, C R Srikumari Srisailapathy
Xuất bản: England: Annals of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  346.038
 
Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product
Tác giả: David Willoughby, Ernest Bognar, John Nemunaitis, Laura Stanbery, Casey Nagel, Gladice Wallraven, Aman Pruthi, Nicholas Bild, Ericca Stamper, Donald Rao, Adam Walter
Xuất bản: England: Scientific reports , 2025
Bộ sưu tập: NCBI
ddc:  551.566
 
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma
Tác giả: Yiwen Zhou, Youjia Zhang, Qingdan Xu, Xinghuai Sun, Yuhong Chen
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  004.338
 
Whole exome sequencing identified mutations of forkhead box I 1 (FOXI1), keratin 6 C (KRT6C) and gap junction protein delta 2 (GJD2) in a low-grade oncocytic tumor of the kidney: a case report
Tác giả: Akinari Kakumoto, Koichi Nishimura, Daisuke Toki, Rika Kasajima, Hajime Kuroda, Yoji Nagashima, Tsunenori Kondo, Yohei Miyagi, Atsuko Masunaga
Xuất bản: England: Diagnostic pathology , 2025
Bộ sưu tập: NCBI
ddc:  516.15
 
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
 
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
 
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
 

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