Hakutulokset - "next generation sequencing"

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene Tekijä Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Sara Gatto, Luigina Spaccini, Gianluca Lista, Gianvincenzo Zuccotti

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A case of primary signet-ring cell carcinoma of the cervix containing full genome of human papillomavirus 16 Tekijä Satoshi Kawai, Yutaka Torii, Iwao Kukimoto, Takuma Fujii

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Alteration of Intestinal Microbiome of <i>Clostridioides difficile-</i>Infected Hamsters during the Treatment with Specific Cow Antibodies Tekijä Hans-Jürgen Heidebrecht, Ilias Lagkouvardos, Sandra Reitmeier, Claudia Hengst, Ulrich Kulozik, Michael W. Pfaffl

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A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family Tekijä Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng

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Current status of molecular diagnostics for lung cancer Tekijä Evgeny N. Imyanitov, Elena V. Preobrazhenskaya, Sergey V. Orlov

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Campylobacter Species, Microbiological Source Tracking and Risk Assessment of Bacterial pathogens Tekijä Bashar Haruna Gulumbe, Abbas Yusuf Bazata, Musbahu Abdullahi Bagwai

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Scutellarin Inhibits Glioblastoma Growth in a Dose-dependent Manner by Suppressing the p63 Signaling Pathway Tekijä Yongjie Chen, Wenlan Li

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Brazilian Expert Consensus for NTRK Gene Fusion Testing in Solid Tumors Tekijä Mariana Petaccia de Macedo, Ellen Caroline Toledo Nascimento, Fernando Augusto Soares, Fernando Costa Santini, Felipe D'Almeida Costa, Isabela Werneck da Cunha, Rodrigo Ramella Munhoz, Pedro De Marchi, Thiago William Carnier Jorge, Kátia Ramos Moreira Leite

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Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts Tekijä Jun Nakayama, Hiroko Matsunaga, Koji Arikawa, Takuya Yoda, Masahito Hosokawa, Haruko Takeyama, Yusuke Yamamoto, Kentaro Semba

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AptamerRunner: An accessible aptamer structure prediction and clustering algorithm for visualization of selected aptamers Tekijä Dario Ruiz-Ciancio, Suresh Veeramani, Rahul Singh, Eric Embree, Chris Ortman, Kristina W. Thiel, William H. Thiel

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Molecular phylogenomic analysis reveals a single origin of monkeypox virus transmission in Guangzhou, China in June 2023 Tekijä Mengling Jiang, Xizi Deng, Qinghong Fan, Fei Gu, Huiqin Yang, Jian Wang, Xiaoping Tang, Fengyu Hu, Yun Lan, Feng Li

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A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease Tekijä Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park, Yeong Wook Song

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Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics Tekijä Soo Yeon Kim

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Two cases of spindle cell tumors with S100 and CD34 co-expression showing novel RAF1 fusions Tekijä Li-Hua Gong, Wei-Feng Liu, Xiao-Hui Niu, Yi Ding

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Evaluation of a Rapid, Fully Automated Platform for Detection of BRAF and NRAS Mutations in Melanoma Tekijä Fanny Barel, Briac Guibourg, Laetitia Lambros, Glen Le Flahec, Pascale Marcorelles, Arnaud Uguen

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Antimicrobial Resistance Profile by Metagenomic and Metatranscriptomic Approach in Clinical Practice: Opportunity and Challenge Tekijä Langgeng Agung Waskito, Yudith Annisa Ayu Rezkitha, Ratha-korn Vilaichone, I Dewa Nyoman Wibawa, Syifa Mustika, Titong Sugihartono, Muhammad Miftahussurur

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Identification of a Novel Pathogen Using Family-Wide PCR: Initial Confirmation of COVID-19 in Thailand Tekijä Supaporn Wacharapluesadee, Supaporn Wacharapluesadee, Rome Buathong, Sopon Iamsirithawon, Walairat Chaifoo, Teerada Ponpinit, Teerada Ponpinit, Chanida Ruchisrisarod, Chanida Ruchisrisarod, Chanikarn Sonpee, Chanikarn Sonpee, Panticha Katasrila, Panticha Katasrila, Siriporn Yomrat, Siriporn Yomrat, Siriporn Ghai, Siriporn Ghai, Sunee Sirivichayakul, Pilailuk Okada, Nanthawan Mekha, Opart Karnkawinpong, Sumonmal Uttayamakul, Apichart Vachiraphan, Tanarak Plipat, Thiravat Hemachudha, Thiravat Hemachudha

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Mosaicism in Tuberous Sclerosis Complex: A Case Report, Literature Review, and Original Data from Danish Hospitals Tekijä Julie Loft Nagel, Maja Patricia Smerdel, Lisbeth Birk Møller, Lotte Andreasen, Anette Bygum

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Thyroid papillary carcinoma combined with primary follicular lymphoma: a case report Tekijä Ting Xu, Li Wu, Hua Ye, Shuai Luo, Jinjing Wang

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Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the liter... Tekijä Lichun Xie, Zhihao Xing, Changgang Li, Si-xi Liu, Fei-qiu Wen

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