Search Results - "next generation sequencing"

Whole Genome Sequencing (WGS) Analysis of Virulence and AMR Genes in Extended-Spectrum β-Lactamase (ESBL)-Producing <i>Escherichia coli</i> from Animal and Environmental Samples in... by Miryam Bonvegna, Laura Tomassone, Henrik Christensen, John Elmerdahl Olsen

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Analysis of the frequency of oncogenic driver mutations and correlation with clinicopathological characteristics in patients with lung adenocarcinoma from Northeastern Switzerland by Alexandra Grosse, Claudia Grosse, Markus Rechsteiner, Alex Soltermann

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New and old lessons from a devastating case of neonatal E coli meningitis by Tawny Saleh, Edwin Kamau, Jennifer A. Rathe

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Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY by Nur Berna Çelik, Naz Güleray Lafcı, Şenay Savaş-Erdeve, Semra Çetinkaya

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NTRK gene aberrations in triple‐negative breast cancer: detection challenges using IHC, FISH, RT‐PCR, and NGS by Federica Zito Marino, Simona Buono, Marco Montella, Rosa Giannatiempo, Francesco Messina, Giovanni Casaretta, Grazia Arpino, Giulia Vita, Francesco Fiorentino, Luigi Insabato, Alessandro Sgambato, Michele Orditura, Renato Franco, Marina Accardo

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High-Risk genotypes associated with poor response to controlled ovarian stimulation in Indian women by Anuradha Udumudi, K Chaitra Lava, Vandana Hegde

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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing by Donavan T. Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E. Robson, Kenneth Offit, Michael F. Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang

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Usefulness of BRAF VE1 immunohistochemistry in non-small cell lung cancers: a multi-institutional study by 15 pathologists in Korea by Sunhee Chang, Yoon-La Choi, Hyo Sup Shim, Geon Kook Lee, Seung Yeon Ha, Korean Cardiopulmonary Pathology Study Group

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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report by Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ

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Capacity building in clinical and molecular characterization of rare neurodegenerative diseases through the development of a local register and improved use of bioinformatics data... by Anna-Gaelle, Jacqueline Véronique-Baudin, Yannis Duffourd, Jocelyn Inamo, Cyril Goizet, Rémi Bellance, Juliette Smith-Ravin

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Clinical Utility of a Fully Automated Microsatellite Instability Test with Minimal Hands-on Time by Miseon Lee, Sung-Min Chun, Chang Ohk Sung, Sun Y. Kim, Tae W. Kim, Se Jin Jang, Jihun Kim

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SILENT KILLERS REVEALED: A CASE REPORT OF AORTIC DISSECTION AND ATHEROSCLEROSIS IN THE YOUNG by Joshua Siar, MPH

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Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction by Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M. Albert, Jacob Tfelt-Hansen

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Oncogenic alterations in advanced NSCLC: a molecular super-highway by Alex Friedlaender, Maurice Perol, Giuseppe Luigi Banna, Kaushal Parikh, Alfredo Addeo

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The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing by Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

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Clinical use of whole exome sequencing in children with developmental delay/intellectual disability by Yoon Hee Jo, Soo Han Choi, Hye Won Yoo, Min Jung Kwak, Kyung Hee Park, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Woo Yeong Chung, Seung Hwan Oh, Young Mi Kim

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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets by Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang, Xiuli Zhao

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Association between mild stimulated IVF/M cycle and early embryo arrest in sub fertile women with/without PCOS by Nagwa Elshewy, Dongmei Ji, Zhiguo Zhang, Dawei Chen, Beili Chen, Rufeng Xue, Huan Wu, Jianye Wang, Ping Zhou, Yunxia Cao

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Full Genome Nobecovirus Sequences From Malagasy Fruit Bats Define a Unique Evolutionary History for This Coronavirus Clade by Gwenddolen Kettenburg, Amy Kistler, Hafaliana Christian Ranaivoson, Hafaliana Christian Ranaivoson, Vida Ahyong, Angelo Andrianiaina, Santino Andry, Joseph L. DeRisi, Anecia Gentles, Vololoniaina Raharinosy, Tsiry Hasina Randriambolamanantsoa, Ny Anjara Fifi Ravelomanantsoa, Cristina M. Tato, Philippe Dussart, Jean-Michel Heraud, Jean-Michel Heraud, Cara E. Brook

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Genomic features of Chinese small cell lung cancer by Jun Liu, Zhuxiang Zhao, Shuquan Wei, Binkai Li, Ziwen Zhao

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