Search Results - "next generation sequencing"

P5 eHealth: An Agenda for the Health Technologies of the Future

Table of Contents: “…Psycho-Cognitive Factors Orienting eHealth Development and Evaluation; Alessandra Gorini and Gabriella Pravettoni -- Chapter 8. Role of Next Generation Sequencing Technologies in Personalized Medicine; Giuseppe Curigliano -- Chapter 9. …”
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Biotic and Abiotic Stress Responses in Crop Plants by Thomas Dresselhaus (Ed.)

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Current Challenges in Cardiovascular Molecular Diagnostics by Carlo Napolitano

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Efficient Screening Techniques to Identify Mutants with TR4 Resistance in Banana Protocols

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Diet and Microbiome in Health and Aging

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Bioinformatics and Machine Learning for Cancer Biology

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Fulminant myocarditis associated with human rhinovirus A66 infection: a case report by Shuaibing Han, Shuaibing Han, Jing Liu, Jing Liu, Ziheng Feng, Ziheng Feng, Yiyang Mao, Yiyang Mao, Hengmiao Gao, Hengmiao Gao, Zhengde Xie, Zhengde Xie, Suyun Qian, Suyun Qian, Lili Xu, Lili Xu

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A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II) by Masoud Dehghan Tezerjani, Mohammad Yahya Vahidi Mehrjardi, Mohammad Yahya Vahidi Mehrjardi, Hossein Hozhabri, Masoud Rahmanian

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Understanding leptospirosis eco-epidemiology by environmental DNA metabarcoding of irrigation water from two agro-ecological regions of Sri Lanka. by Chandika D Gamage, Yukuto Sato, Ryosuke Kimura, Tetsu Yamashiro, Claudia Toma

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Ipsilateral synchronous papillary renal neoplasm with reverse polarity and urothelial carcinoma in a renal transplant recipient: a rare case report with molecular analysis and lite... by Daosheng Li, Fenfen Liu, Yiqian Chen, Ping Li, Yuyu Liu, Yu Pang

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Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA) by Sijia He, Hongbo Chen, Xia Guo, Ju Gao

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Circulating Tumor DNA from Ascites as an alternative to tumor sampling for genomic profiling in ovarian cancer patients by Maria Kfoury, Reda El Hazzaz, Claire Sanson, Felix Blanc Durand, Judith Michels, Emeline Colomba Blameble, Roseline Tang, Audrey Le Formal, Elodie Lecerf, Sebastien Gouy, Amandine Maulard, Patricia Pautier, Etienne Rouleau, Alexandra Leary

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Duration of onset, body temperature and C-reactive protein can be used to predict the results of pus culture in children with acute osteomyelitis of long bones by Haiting Jia, Yanan Liu, Tao Liu

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Decidualization score identifies an endometrial dysregulation in samples from women with recurrent pregnancy losses and unexplained infertility by Svetlana Dambaeva, Ph.D, Mahmood Bilal, Ph.D, Sylvia Schneiderman, M.S, Alfredo Germain, M.D, Emilio Fernandez, M.D, Joanne Kwak-Kim, M.D, Kenneth Beaman, Ph.D, Carolyn Coulam, M.D

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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome by Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

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Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases by M. Tarozzi, A. Bartoletti-Stella, D. Dall'Olio, T. Matteuzzi, S. Baiardi, P. Parchi, G. Castellani, S. Capellari

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Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature by Ahmet Kablan, Elifcan Tasdelen

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Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation by Peng Fan, Di Zhang, Xiao-Cheng Pan, Kun-Qi  Yang, Qiong-Yu Zhang, Yi-Ting Lu, Ying Zhang, Xue-Ying Liu, Wen-Jun Ma, Hui-Min Zhang, Lei Song, Jun Cai, Ya-Xin Liu, Xian-Liang Zhou

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Whole-genome sequencing and characterization of an antibiotic resistant Neisseria meningitidis B isolate from a military unit in Vietnam by Thach Xuan Tran, Trang Thu Le, Long Phi Trieu, Christopher M. Austin, Dong Van Quyen, Huong Minh Nguyen

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Case report: Clinicopathological and molecular characteristics of pediatric-type follicular lymphoma by Beibei Ren, Beibei Ren, Beibei Ren, Yu Chen, Yu Chen, Yu Chen, Xuanye Bai, Xuanye Bai, Xuanye Bai, Jiawen Zheng, Jing Chang, Xiangnan Jiang, Qingxin Xia, Qingxin Xia, Qingxin Xia, He Zhang, He Zhang, He Zhang

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