Search Results - "next generation sequencing"

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly by Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Paola Baldassarre, Luigina Spaccini, Rosa Maria Alfano, Giana Izzo, Laura Grazia Valentini, Gianvincenzo Zuccotti

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Human infection with Seoul orthohantavirus in Korea, 2019. by Changmin Kang, Jin Il Kim, Jungmin Lee, Seongman Bae, Min Jae Kim, Ki-Joon Song, Jin-Won Song, Sung-Han Kim, Man-Seong Park

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Quiescent Human Mesenchymal Stem Cells Are More Resistant to Heat Stress than Cycling Cells by L. L. Alekseenko, M. A. Shilina, O. G. Lyublinskaya, J. S. Kornienko, O. V. Anatskaya, A. E. Vinogradov, T. M. Grinchuk, I. I. Fridlyanskaya, N. N. Nikolsky

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Genetic predisposition and high exposure to colistin in the early treatment period as independent risk factors for colistin‐induced nephrotoxicity by Sumith K. Mathew, Aaron Chapla, Padmanaban Venkatesan, Vishnu Eriyat, Blessed Winston Aruldhas, Ratna Prabha, Michael N. Neely, Shoma V. Rao, Subramani Kandasamy, Binu Susan Mathew

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Transcriptomic profile assessment for preeclampsia prediction and early diagnostics by A. V. Melnik, V. E. Solovyova, Yu. O. Yatsenko, A. E. Filippova, E. G. Asryan, T. Е. Seitumerov, E. R. Myshak, Yu. A. Chernysheva, S. A. Ziyadinova, V. O. Kononenko, M. R. Kadyrova, A. A. Denisenko, K. T. Ismagilova, D. V. Mushinsky, L. E. Sorokina

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 by Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

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Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation by Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods, Maria Byrne

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Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey by Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz

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Malignant Perivascular epithelioid cell tumour of the uterus without TFE3 gene rearrangement: a case report by Mu Xu, Jianhui Fu, Liangzhi Cai

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Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty by Dewei Li, Le Tian, Xiaochuan Wang, Min Chen

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Foodborne Pathogen Dynamics in Meat and Meat Analogues Analysed Using Traditional Microbiology and Metagenomic Sequencing by Francesco Bonaldo, Baptiste Jacques Philippe Avot, Alessandra De Cesare, Frank M. Aarestrup, Saria Otani

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Individual gut microbiological signature in obese diabetic spouses - case report and literature review by Magdalena Piłot, Sylwia Dzięgielewska-Gęsiak, Agnieszka Wolińska-Grabowska, Małgorzata Muc-Wierzgoń

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Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism by Jayne AL Houghton, Indraneel Banerjee, Guftar Shaikh, Shamila Jabbar, Thomas W Laver, Edmund Cheesman, Amish Chinnoy, Daphne Yau, Maria Salomon‐Estebanez, Mark J Dunne, Sarah E Flanagan

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Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia by Cong Zhou, Yepei Du, Haixia Zhang, Xing Wei, Rui Li, Jing Wang

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Human-likeness of antibody biologics determined by back-translation and comparison with large antibody variable gene repertoires by Samuel Schmitz, Cinque Soto, James E. Crowe, Jens Meiler

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Novel Approach to Proficiency Testing Highlights Key Practice Variations in Cancer Biomarker Delivery by Kassandra R. Bisson, Jennifer R. Won, Andrea Beharry, Michael D. Carter, Shaan Dudani, John G. Garratt, Jonathan M. Loree, Stephanie Snow, Stephen Yip, Brandon S. Sheffield

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A Review: Composition of Neonatal Meconium Microbiota and Its Role for Potential Probiotic by Devi Oktaviyani, Raden Zulfa 'Alawiyyah, Putri Nusaiba, Amarila Malik

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Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice by Evi Abada, Ifeoma C. Anaya, Othuke Abada, Anthony Lebbos, Rafic Beydoun

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Omics for Bioprospecting and Drug Discovery from Bacteria and Microalgae by Reuben Maghembe, Donath Damian, Abdalah Makaranga, Stephen Samwel Nyandoro, Sylvester Leonard Lyantagaye, Souvik Kusari, Rajni Hatti-Kaul

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Association of periodontitis and oral microbiomes with Alzheimer's disease: A narrative systematic review by Samantha Mao, Chen-Pang Huang, Hsin Lan, Hing-Ger Lau, Chun-Pin Chiang, Yi-Wen Chen

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