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Non-Invasive Gene Mutation Detection in Lung Cancer Patients
Year of Publication 12.09.2022
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Patent
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Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients
Eustace Ryan, Siobhan, Ryan, Fergus, Barton, David, O’Dwyer, Veronica, Neylan, Derek
Published in Eye and vision (Novato, Calif.) (01.01.2015)
Published in Eye and vision (Novato, Calif.) (01.01.2015)
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Phenylketonuria mutations in Northern China
Song, Fang, Qu, Yu-jin, Zhang, Ting, Jin, Yu-wei, Wang, Hong, Zheng, Xiao-ying
Published in Molecular genetics and metabolism (01.12.2005)
Published in Molecular genetics and metabolism (01.12.2005)
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Cx26 deafness: mutation analysis and clinical variability
Murgia, A, Orzan, E, Polli, R, Martella, M, Vinanzi, C, Leonardi, E, Arslan, E, Zacchello, F
Published in Journal of medical genetics (01.11.1999)
Published in Journal of medical genetics (01.11.1999)
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Probe library for TFEB fusion gene mutation, detection method and kit
PANG JIAOHUI, TAO XUERUI, YU TIANSHU, WANG XIAONAN, GONG BO, SHAO YANG, WU XIAOYING, SHENG LANYUE, ZHOU YU, LI HUAN, WU YIXIAO
Year of Publication 27.09.2024
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Year of Publication 27.09.2024
Patent
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Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1
Luca, Alessandro De, Schirinzi, Annalisa, Buccino, Anna, Bottillo, Irene, Sinibaldi, Lorenzo, Torrente, Isabella, Ciavarella, Angela, Dottorini, Tania, Porciello, Roberto, Giustini, Sandra, Calvieri, Stefano, Dallapiccola, Bruno
Published in Human mutation (01.06.2004)
Published in Human mutation (01.06.2004)
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13. Development of a Novel Mutation Detection System in the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDS Type IV) Using High-resolution Melting Curve Analysis
Banyar Than Naing, Atsushi Watanabe, Takashi Shimada
Published in Journal of Nippon Medical School (2010)
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Published in Journal of Nippon Medical School (2010)
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TNER: A Novel Background Error Suppression Method for Mutation Detection in Circulating Tumor DNA
Deng, Shibing, Lira, Maruja, Huang, Donghui, Wang, Kai, Valdez, Crystal, Kinong, Jennifer, Rejto, Paul A, Bienkowska, Jadwiga R, Hardwick, James, Xie, Tao
Published in bioRxiv (17.04.2018)
Published in bioRxiv (17.04.2018)
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A mutation detection in a transcription factor for adipocyte development in children with severe obesity.
Agústsson, T T, Hákonarson, H, Olafsson, I, Hjaltadóttir, G, Thornórsson, A V
Published in Laeknabladid (01.02.2001)
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Published in Laeknabladid (01.02.2001)
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