Arama Sonuçları - "next generation sequencing"

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs Yazar: Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello

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The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications Yazar: Anwarul Karim, Clara Sze-Man Tang, Clara Sze-Man Tang, Paul Kwong-Hang Tam, Paul Kwong-Hang Tam

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Non-small-cell lung cancer: how to manage EGFR-mutated disease Yazar: Federica Pecci, Luca Cantini, Giulio Metro, Biagio Ricciuti, Giuseppe Lamberti, Ammad Ahmad Farooqi, Rossana Berardi

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Case Report: Comparison of Plasma Metagenomics to Bacterial PCR in a Case of Prosthetic Valve Endocarditis Yazar: Joshua A. Lieberman, Caitlin Naureckas Li, Gabriella S. Lamb, David A. Kane, Mary K. Stewart, Ruslan A. Mamedov, Brad T. Cookson, Brad T. Cookson, Stephen J. Salipante

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A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism Yazar: Peng Zhou, Jin Wu

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Alterations in the oral microbiome of individuals with a healthy oral environment following COVID-19 vaccination Yazar: Osamu Uehara, Yoshihiro Abiko, Toshiyuki Nagasawa, Tetsuro Morikawa, Daichi Hiraki, Fumiya Harada, Yutaka Kawano, Seiko Toraya, Hirofumi Matsuoka, Durga Paudel, Shintaro Shimizu, Koki Yoshida, Masahiro Asaka, Yasushi Furuichi, Hiroko Miura

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Uterine mesenchymal tumors harboring ALK fusions and response to ALK-targeted therapy Yazar: Chrisann Kyi, Claire F. Friedman, Jennifer J. Mueller, Ryma Benayed, Marc Ladanyi, Maria Arcila, Soo Ryum Yang, Martee L. Hensley, Sarah Chiang

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Soft tissue perineurioma involving the kidney: a report of two cases with an emphasis on differential diagnosis Yazar: Tian-shi Ma, Ling Zhou, Quan Zhou, Xiang-lei He, Ming Zhao

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Genetic Identification and Drug-Resistance Characterization of <i>Mycobacterium tuberculosis</i> Using a Portable Sequencing Device. A Pilot Study Yazar: Jorge Cervantes, Noemí Yokobori, Bo-Young Hong

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An integrated overview of the bacterial flora composition of Hyalomma anatolicum, the main vector of CCHF. Yazar: Nayyereh Choubdar, Fateh Karimian, Mona Koosha, Mohammad Ali Oshaghi

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Case report: Robust response to sintilimab in advanced distal cholangiocarcinoma with PD-L1 expression and DNA damage repair Yazar: Wenguang He, Congcong Song, Jiwei Ren, Xiao Ji, Xiuyan Wang, Lixia Liu

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Discovery of a novel bat lyssavirus in a Long-fingered bat (Myotis capaccinii) from Slovenia. Yazar: Danijela Černe, Peter Hostnik, Ivan Toplak, Primož Presetnik, Jedrt Maurer-Wernig, Urška Kuhar

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An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment Yazar: Jennifer A. Fairley, Zandra C. Deans, Rebecca J. L. Treacy, Eilidh Grieg, Kathryn Bungartz, Ruth Burton, James Hayes, Sheryl K. Elkin

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Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1 Yazar: Won Kyung Kwon, Jee Ah Kim, Jong-Ho Park, Doo Ri Kim, Su Eun Park, Yae Jean Kim, Keon Hee Yoo, Ja-Hyun Jang, Eun Suk Kang

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Diffuse cystic lung disease caused by tuberculosis infection: Case series Yazar: Lu Wang, Jingwei Liu, Huahong Yang, Liping Peng

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International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis Yazar: Corinna C. A. Clark, Pru Holder, Felicity K. Boardman, Louise Moody, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, Jane Chudleigh

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Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases Yazar: Yun Qin Wu, Yue Yuan Hu, Gui Nan Li

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Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis Yazar: Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma

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Liquid biopsy-A biomarker‐based revolutionising technique in cancer therapy Yazar: Subham Sarkar, Samraggi Chakraborty, Soubhagya Ghosh, Ekanansha Roy Chowdhury, Jenifer Rajak, Arup Kumar Mitra, Ajoy Kumer, Bikram Dhara

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Exploring links between oral health and infective endocarditis Yazar: Joseph Luke Falconer, Joseph Luke Falconer, Ronak Rajani, Vitaliy Androshchuk, Amieth Yogarajah, Rebecca A. Greenbury, Ayden Ismail, Natasha Oh, Luigi Nibali, Luigi Nibali, Eleanor M. D'Agostino, Vanessa Sousa, Vanessa Sousa

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