Arama Sonuçları - "next generation sequencing"

Characterization of a novel HLA-A*11:335 allele resulting from a rare interlocus recombination involving HLA-A*11:01:01:01/126 and HLA-H*02:07/14/18 alleles with nanopore sequencin... Yazar: Li-Qun Zhang, Erik Rozemuller, Dan Wang, Xiang-Jun Liu, Jian-Ping Cai

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Molecular Epidemiology of Carbapenem-Resistant <i>Acinetobacter baumannii</i> Isolated from War-Injured Patients from the Eastern Ukraine Yazar: Paul G. Higgins, Ralf Matthias Hagen, Andreas Podbielski, Hagen Frickmann, Philipp Warnke

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What is new in genetics and osteogenesis imperfecta classification? Yazar: Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel

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Detection of multiple mycetoma pathogens using fungal metabarcoding analysis of soil DNA in an endemic area of Sudan. Yazar: Hiroki Hashizume, Suguru Taga, Masayuki K Sakata, Mahmoud Hussein Mohamed Taha, Emmanuel Edwar Siddig, Toshifumi Minamoto, Ahmed Hassan Fahal, Satoshi Kaneko

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Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients Yazar: Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag

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Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1 Yazar: Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao, Xue Zhang

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Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review Yazar: Nuo Yang, Limin Chen, Yanfeng Zhang, Xuemei Wu, Yunpeng Hao, Fan Yang, Zuozhen Yang, Jianmin Liang

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Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature Yazar: Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina

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Monitoring Coronavirus Disease 2019: A Review of Available Diagnostic Tools Yazar: Shanshan Liu, Qiuyue Li, Xuntao Chu, Minxia Zeng, Mingbin Liu, Mingbin Liu, Xiaomeng He, Heng Zou, Jianghua Zheng, Christopher Corpe, Xiaoyan Zhang, Jianqing Xu, Jin Wang

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A highly multiplexed broad pathogen detection assay for infectious disease diagnostics. Yazar: Jeffrey W Koehler, Christina E Douglas, Timothy D Minogue

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Circulating cell-free (cf)DNA analysis: Current technologies and applications in gynecologic cancer Yazar: Sarah H Kim, Britta Weigelt

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Recurrent secondary genomic alterations in desmoplastic small round cell tumors Yazar: Warren A. Chow, Jiing-Kuan Yee, Walter Tsark, Xiwei Wu, Hanjun Qin, Min Guan, Jeffrey S. Ross, Siraj M. Ali, Sherri Z. Millis

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Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023) Yazar: Banu Kadıoğlu Yılmaz, Ayşe Hümeyra Akgül

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Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay Yazar: Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao

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DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy Yazar: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

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Association between the <i>bla</i>_CTX-M-14-harboring <i>Escherichia coli</i> Isolated from Weasels and Domestic Animals Reared on a University Campus Yazar: Montira Yossapol, Miku Yamamoto, Michiyo Sugiyama, Justice Opare Odoi, Tsutomu Omatsu, Tetsuya Mizutani, Kenji Ohya, Tetsuo Asai

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Genome sequencing reveals coinfection by multiple chikungunya virus genotypes in a recent outbreak in Brazil. Yazar: Lais Ceschini Machado, Mariana Carolina de Morais-Sobral, Tulio de Lima Campos, Mylena Ribeiro Pereira, Maria de Fátima Pessoa Militão de Albuquerque, Clément Gilbert, Rafael Freitas Oliveira Franca, Gabriel Luz Wallau

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Applications of Deep-Learning in Exploiting Large-Scale and Heterogeneous Compound Data in Industrial Pharmaceutical Research Yazar: Laurianne David, Laurianne David, Josep Arús-Pous, Josep Arús-Pous, Johan Karlsson, Ola Engkvist, Esben Jannik Bjerrum, Thierry Kogej, Jan M. Kriegl, Bernd Beck, Hongming Chen, Hongming Chen

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Distribution of HLA-B Alleles and Haplotypes in Qatari: Recommendation for Establishing Pharmacogenomic Markers Screening for Drug Hypersensitivity Yazar: Mohammed Dashti, Abdullah Al-Matrouk, Arshad Channanath, Prashantha Hebbar, Fahd Al-Mulla, Thangavel Alphonse Thanaraj

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Mitochondrial DNA quantification correlates with the developmental potential of human euploid blastocysts but not with that of mosaic blastocysts Yazar: Wen Luo, Yi-Min Zheng, Yan Hao, Ying Zhang, Ping Zhou, Zhaolian Wei, Yunxia Cao, Dawei Chen

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