Search Results - "next generation sequencing"

Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings by Nattiya Kapol, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Lalida Kongkiattikul, Evan Huang-Ku, Namfon Sribundit, Surasit Lochid-Amnuay, Nathapol Samprasit, Thamonwan Dulsamphan, Parntip Juntama, Chotika Suwanpanich, Ponghathai Boonsimma, Vorasuk Shotelersuk, Vorasuk Shotelersuk, Yot Teerawattananon, Yot Teerawattananon

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Clinical and Genetic Analysis of a Patient with CMT4J by Leema Reddy Peddareddygari, Raji P. Grewal

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Expression of Paracrine Effectors in Human Adipose‐Derived Mesenchymal Stem Cells Treated With Plasma From Brown Bears (Ursus arctos) by Maria Berg von Linde, Karin Johansson, Robert Kruse, Gisela Helenius, Ninos Samano, Örjan Friberg, Anne Mette Frøbert, Ole Fröbert

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Impressive clinical response following combined BRAF and MEK inhibition in a low-grade serous ovarian carcinoma patient with a BRAF V600E mutation by Anna Rodzajewska, Weronika Kuryło, Katarzyna Szklener

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Novel Cyclic Peptides for Targeting EGFR and EGRvIII Mutation for Drug Delivery by Olga Furman, Alisa Zaporozhets, Dror Tobi, Andrii Bazylevich, Michael A. Firer, Leonid Patsenker, Gary Gellerman, Bat Chen R. Lubin

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A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report by Dalin Fu, Weisheng Lin, Fen Lu, Senjie Du, Min Zhu, Xiaoke Zhao, Jian Tang, Chuan Chen, Xiaoli Chui, Shanmei Tang, Kai Wang, Chuanchun Yang, Bei Han

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Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report by Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li, Shuang Liu

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LIPOPROTEIN(A) ELEVATIONS COMMON, BUT NOT HIGHER IN GENOTYPE POSITIVE FAMILIAL HYPERCHOLESTEROLEMIA VERSUS GENOTYPE NEGATIVE INDIVIDUALS WITH HYPERLIPIDEMIA, IN PATIENTS REFERRED T... by Bailey A Kamp, MS

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Molecular epidemiological characteristics of SARS-CoV-2 in imported cases from 2021 to 2022 in Zhejiang Province, China by Biaofeng Zhou, Yi Sun, Haiyan Mao, Lingxuan Su, Yihan Lou, Hao Yan, Wenwu Yao, Honghu Chen, Yanjun Zhang

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Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE by Eleanor R Gray, Justyna M Mordaka, Efthimia R Christoforou, Kristine von Bargen, Nicola D Potts, Christina Xyrafaki, Ana-Luisa Silva, Magdalena Stolarek-Januszkiewicz, Katarzyna Anton, Paulina K Powalowska, Simonetta Andreazza, Alessandro Tomassini, Rebecca N Palmer, Aishling Cooke, Robert J Osborne, Barnaby W Balmforth

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Association between IL-6 polymorphisms and Atopic Dermatitis in Chinese Han children by Shuangshuang Huang, Hao Wang, Huiwen Zheng, Wei Li, Jianrong Shi, Chen Shen, Chen Shen, Ran Tao

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Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study by Xuefeng Pan, Benjie Wei, Hong Wang, Lingyu Ma, Zhaoli Du, Ying Chen

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

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Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature by Dun Liu, Chuangqi Chen, Xiqian Zhang, Mei Dong, Tianwen He, Yunqiao Dong, Jian Lu, Lihua Yu, Chuanchun Yang, Fenghua Liu

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Host genetic susceptibility to mycetoma. by Rayan S Ali, Melanie J Newport, Sahar Mubarak Bakhiet, Muntaser E Ibrahim, Ahmed Hassan Fahal

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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen

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Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: A case report by R. Silva, B. Moran, S. Das, N. Mulligan, M. Doughty, A. Treacy, K. Sheahan, C.M. Kelly, A.G. Duffy, A.S. Perry, D.J. Brennan

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Molecular pathogenesis of spontaneous abortions - Whole genome copy number analysis and expression of angiogenic factors by Ivanka Dimova, Momchil Rizov, Silva Giragosyan, Miglena Koprinarova, Dochka Tzoneva, Kalina Belemezova, Mariela Hristova-Savova, Tanya Milachich, Valentin Djonov, Atanas Shterev

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Analysis of exosomal circRNAs upon irradiation in pancreatic cancer cell repopulation by Yi-yun Chen, Ming-jie Jiang, Ling Tian

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New eight genes identified at the clinical multidrug-resistant Acinetobacter baumannii DMS06669 strain in a Vietnam hospital by Nguyen Si-Tuan, Hua My Ngoc, Pham Thi Thu Hang, Cuong Nguyen, Pham Hung Van, Nguyen Thuy Huong

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