Search Results - "next generation sequencing"

Case series: Three cases emphasizing importance of genetics in PICU by Aradhana Dwivedi, Ashish Kumar Simalti, Jyotindra Narayan Goswami, Suprita Kalra, Vandana Negi

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Data security in genomics: A review of Australian privacy requirements and their relation to cryptography in data storage by Arran Schlosberg

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Antibody repertoire profiling with mimotope arrays by Shina Pashova, Christoph Schneider, Stephan von Gunten, Anastas Pashov

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Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome by Gebril OH, Cheong SS, Hardcastle AJ, Abdelraouf ER, Eid SR, Elsaied M

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

Table of Contents: “…A protocol for detection of large chromosome variations in banana using Next Generation Sequencing -- Part IV: Low-cost in vitro Methods for Banana Micropropagation -- Chapter 10. …”
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Metagenomics for Gut Microbes

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A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome by Surya Ravindran, Sebastian Criton, Divya Surendran

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BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature by Mir Ali, Celia Dawn Delozier, Uzair Chaudhary

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Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia by Donghyun Lee, So Yun Park, Heung Sik Kim, Seokjin Kang

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Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine by Qingping Yao, Ellen Li, Bo Shen

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Targeting neoantigens for cancer immunotherapy by Xuan Zhao, Xiaoxin Pan, Yi Wang, Yi Zhang

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Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report by Martin Bezdíčka, Jan Langer, Jaromír Háček, Jakub Zieg

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GATA3 expression in pulmonary mucinous adenocarcinoma presenting as a distant metastasis: A case report by Nada Shaker, CeCelia Hanline, Isabella M. Tynski, Zofia Tynski, Chiemezie C. Amadi, Anil Parwani, Konstantin Shilo

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Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family by Yuling Gu, Bing Han, Xiaolan Zhu, Youguo Chen

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23rd Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) by Gwendolyn Gramer, Jürgen G. Okun, Georg F. Hoffmann

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Case Report: PTEN Mutation Induced by anti-PD-1 Therapy in Stage IV Lung Adenocarcinoma by Junjie Teng, Junjie Teng, Kai Zhou, Dongxiao Lv, Changshun Wu, Hong Feng

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Response to trametinib in recurrent low-grade serous ovarian cancer with NRAS mutation: A case report by Miriam Champer, Devin Miller, Dennis Yi-Shin Kuo

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Whole Genome Sequencing for Studying <i>Helicobacter pylori</i> Antimicrobial Resistance by Belén Fernández-Caso, Ana Miqueleiz, Teresa Alarcón

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MultiEditR: The first tool for the detection and quantification of RNA editing from Sanger sequencing demonstrates comparable fidelity to RNA-seq by Mitchell G. Kluesner, Rafail Nikolaos Tasakis, Taga Lerner, Annette Arnold, Sandra Wüst, Marco Binder, Beau R. Webber, Branden S. Moriarity, Riccardo Pecori

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Use of application containers and workflows for genomic data analysis by Wade L Schulz, Thomas Durant, Alexa J Siddon, Richard Torres

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