Search Results - "next generation sequencing"

Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family by Shusen Guo, Shimin Wu, Zhuxi Li, Lianjing Huang, Di Zhan, Cai Zhang, Xiaoping Luo

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Fast-tracking antibody maturation using a B cell-based display system by Hitomi Masuda, Atsushi Sawada, Shu-ichi Hashimoto, Kanako Tamai, Ke-Yi Lin, Naoto Harigai, Kohei Kurosawa, Kunihiro Ohta, Hidetaka Seo, Hiroshi Itou

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Metabarcoding study of potential pathogens and zoonotic risks associated with dog feces in Seoul, South Korea. by Isuru Liyanagama, Singeun Oh, Jun Ho Choi, Myung-Hee Yi, Myungjun Kim, Sohyeon Yun, Dongjun Kang, Soo Lim Kim, Maria Gloria Ojeda Ayala, Fred Odua, Tai-Soon Yong, Ju Yeong Kim

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MicroRNA expression profiles in peri-miniscrew implant crevicular fluid in orthodontics: a pilot study by Wendan He, Yanru Yang, Longgan Cai, Qiaoling Lei, Zhongdong Wang, Xiaoxia Che

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A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report by Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang

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Genomic surveillance of SARS-CoV-2 in Weihai, China, march 2022 to march 2023 by Xiang Li, Yuwei Zhang, Jinbo Zhang, Zongyan Sui, Xinyi Qu, Mingrui Wang, Tingting Miao, Jizhao Li

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Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics by Kenneth D. Doig, Christopher G. Love, Thomas Conway, Andrei Seleznev, David Ma, Andrew Fellowes, Piers Blombery, Stephen B. Fox

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants by Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou

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Assessment of 6 STR loci for prenatal diagnosis of Duchenne Muscular Dystrophy by Linh Thuy Dinh, Van Khanh Tran, Long Hoang Luong, Phuong Thi Le, Anh Duy Nguyen, Bang Suong Thi Nguyen, Dung Vu Chi, Thinh Huy Tran, The-Hung Bui, Thanh Van Ta, Duc Hinh Nguyen

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Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome by Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang

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Mutation profiles of follicular thyroid tumors by targeted sequencing by Huanli Duan, Xiaoding Liu, Xinyu Ren, Hui Zhang, Huanwen Wu, Zhiyong Liang

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study by Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

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Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma by Qiong Li, Wei Zhang, Jiali Li, Jingkang Xiong, Jia Liu, Ting Chen, Qin Wen, Yunjing Zeng, Li Gao, Lei Gao, Cheng Zhang, Peiyan Kong, Xiangui Peng, Yao Liu, Xi Zhang, Jun Rao

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Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy by Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan, Qiuju Wang

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Thai pharmacogenomics database −2 (TPGxD‐2) sequel to TPGxD‐1, analyzing genetic variants in 26 non‐VIPGx genes within the Thai population by Shobana John, Sommon Klumsathian, Paravee Own‐eium, Angkana Charoenyingwattana, Jakris Eu‐ahsunthornwattana, Thanyachai Sura, Donniphat Dejsuphong, Piyamitr Sritara, Prin Vathesatogkit, Nartthawee Thongchompoo, Wiphaporn Thabthimthong, Nuttinee Teerakulkittipong, Wasun Chantratita, Chonlaphat Sukasem

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Genomic surveillance of SARS-CoV-2 by sequencing the RBD region using Sanger sequencing from North Kerala by Dhananjayan Dhanasooraj, Prasanth Viswanathan, Shammy Saphia, Beena Philomina Jose, Fairoz Cheriyalingal Parambath, Saritha Sivadas, N. P. Akash, T. V. Vimisha, Priyanka Raveendranadhan Nair, Anuja Mohan, Nimin Hafeez, Jayesh Kumar Poovullathi, Shameer Vadekkandiyil, Sajeeth Kumar Keriyatt Govindan, Rajan Khobragade, KP Aravindan, Chandni Radhakrishnan

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Molecular Epidemiology of Carbapenem-Resistant <i>Acinetobacter baumannii</i> Isolates from Northern Africa and the Middle East by Paul G. Higgins, Ralf Matthias Hagen, Bernd Kreikemeyer, Philipp Warnke, Andreas Podbielski, Hagen Frickmann, Ulrike Loderstädt

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Trifolium pratense ethanolic extract alters the gut microbiota composition and regulates serum lipid profile in the ovariectomized rats by Yixian Quah, Na-Hye Park, Eon-Bee Lee, Ki-Ja Lee, Jireh Chan Yi-Le, Md. Sekendar Ali, Seung-Hee Jang, Min-Jeong Kim, Seung-Jin Lee, Seung-Chun Park

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NRICM101 ameliorates SARS-CoV-2-S1-induced pulmonary injury in K18-hACE2 mice model by Wen-Chi Wei, Keng-Chang Tsai, Keng-Chang Tsai, Chia-Ching Liaw, Chia-Ching Liaw, Chun-Tang Chiou, Yu-Hwei Tseng, Geng-You Liao, Yu-Chi Lin, Wen-Fei Chiou, Kuo-Tong Liou, I-Shing Yu, Yuh-Chiang Shen, Yi-Chang Su

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Dynamics of oral microbiome acquisition in healthy infants: A pilot study by Yihong Li, Prakaimuk Saraithong, Lanxin Zhang, Ashley Dills, Bruce J. Paster, Bruce J. Paster, Jin Xiao, Tong Tong Wu, Zachary Jones

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