Search Results - "next generation sequencing"

Applications of genomic research in pediatric endocrine diseases by Ja Hye Kim, Jin-Ho Choi

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Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia by Zhanhui Ou, Yu Deng, Yunhao Liang, Zhiheng Chen, Ling Sun

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Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism by Maryam Razzaghy-Azar, Saeedeh Saeedi, Sepideh Borhan Dayani, Samaneh Enayati, Farzaneh Abbasi, Somayyeh Hashemian, Peyman Eshraghi, Siroos Karimdadi, Parisa Tajdini, Rahim Vakili, Mahsa M. Amoli, Hanieh Yaghootkar

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Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C by Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani

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Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases by Ying Ding, Cong Wang, Xuejie Li, Yangyang Jiang, Ping Mei, Wenbin Huang, Guoxin Song, Jinsong Wang, Guoqiang Ping, Ran Hu, Chen Miao, Xiao He, Gang Chen, Hai Li, Yan Zhu, Zhihong Zhang

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Cost-Effectiveness of Genomic Test-Directed Olaparib for Metastatic Castration-Resistant Prostate Cancer by Dan Su, Bin Wu, Lizheng Shi

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Effect of Antibiotic Eye Drops on the Nasal Microbiome in Healthy Subjects-A Pilot Study by Clemens Nadvornik, Martin Kallab, Nikolaus Hommer, Andreas Schlatter, Theresa Stengel, Gerhard Garhöfer, Markus Zeitlinger, Sabine Eberl, Ingeborg Klymiuk, Slave Trajanoski, Marion Nehr, Athanasios Makristathis, Doreen Schmidl, Alina Nussbaumer-Proell

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Case Report: Report of Infective Endocarditis Caused by Abiotrophia defectiva and Literature Review by Yanqiang Du, Zhan Zhang, Chao Chen, Han Xia, Hua Zhang, Zhangyan Guo, Yi Wang

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Evaluation of ctDNA in the Prediction of Response to Neoadjuvant Therapy and Prognosis in Locally Advanced Rectal Cancer Patients: A Prospective Study by Marina Morais, Telma Fonseca, Diogo Melo-Pinto, Isabel Prieto, Ana Teresa Vilares, Ana Luísa Duarte, Patrícia Leitão, Luís Cirnes, José Carlos Machado, Silvestre Carneiro

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Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input by Michael H. Farrell, Katherine E. Mooney, Anita Laxova, Philip M. Farrell

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Angiosarcoma of the ovary treated with polyadenosine ribose polymerase Inhibition, a case report and review of the literature by Andrea M. Johnson, Peter A. Argenta

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Novel NRAS G12D mutation in extraosseous/peripheral ameloblastoma: Case report and review of mitogen-activated protein kinase pathway mutations in extraosseous/peripheral and intra... by Kyu-Young Oh, Seong-Doo Hong

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Editorial: Integration of NGS in clinical and public health microbiology workflows: applications, compliance, quality considerations by Shangxin Yang, Varvara K. Kozyreva, Ruth E. Timme, Peera Hemarajata

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Clear cell-rich odontogenic tumor of the mandible in a 4-year-old child: A report of a diagnostically challenging case by Kyu-Young Oh, Seong-Doo Hong

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Genetic abnormalities in congenital melanocytic nevi and their associated melanomas by Ashwath J. Sampath, MD, Alexis M. Ruffolo, MD, Jayson Miedema, MD, Paul B. Googe, MD, Nancy E. Thomas, MD, PhD

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TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy by Song K, He F, Xin Y, Guan G, Huo J, Zhu Q, Fan N, Guo Y, Zang Y, Wu L

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Will long-read sequencing technologies replace short-read sequencing technologies in the next 10 years? by Boluwatife A. Adewale

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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China by Feng Tang, Yuanyuan Xiao, Cong Zhou, Haixia Zhang, Jing Wang, Yang Zeng

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Identification of novel bacterial species in the blood of patients with neonatal sepsis by Yi Wu, Weiming Gong, Zhenni Wang, Mengjie Luo

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Identification of biomarkers for amyotrophic lateral sclerosis by comprehensive analysis of exosomal mRNAs in human cerebrospinal fluid by Kentaro Otake, Hidenori Kamiguchi, Yoshihiko Hirozane

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