Search Results - "next generation sequencing"

ALK-TPM3 rearrangement in adult renal cell carcinoma: a case report and literature review by Jing Yang, Lei Dong, Hong Du, Xiu-bo Li, Yan-xiao Liang, Guo-rong Liu

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Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss by Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang

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Agnostic Approvals in Oncology: Getting the Right Drug to the Right Patient with the Right Genomics by Valentina Tateo, Paola Valeria Marchese, Veronica Mollica, Francesco Massari, Razelle Kurzrock, Jacob J. Adashek

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XenoCell: classification of cellular barcodes in single cell experiments from xenograft samples by Stefano Cheloni, Roman Hillje, Lucilla Luzi, Pier Giuseppe Pelicci, Elena Gatti

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Case Report: First Case of Endophthalmitis Caused by an Emerging Pathogen: Nocardia huaxiensis by Chang Liu, Lei Zhang, Lili Liu, Ye Wang, Yanhui Cui, Tianwei Liang, Tianming Chen, Yongqiang Jiang, Gang Liu, Li Li

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Human Placental Extract Delays In Vitro Cellular Senescence through the Activation of NRF2-Mediated Antioxidant Pathway by Liguo Huang, Lit-Chein Chin, Koichi Kimura, Yasukazu Nakahata

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Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease by Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic

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Non-Small Cell Lung Cancer Harboring Concurrent <i>EGFR</i> Genomic Alterations: A Systematic Review and Critical Appraisal of the Double Dilemma by Valerio Gristina, Maria La Mantia, Antonio Galvano, Sofia Cutaia, Nadia Barraco, Marta Castiglia, Alessandro Perez, Marco Bono, Federica Iacono, Martina Greco, Katia Calcara, Valentina Calò, Sergio Rizzo, Lorena Incorvaia, Maria Chiara Lisanti, Giulia Santanelli, Delia Sardo, Sara Inguglia, Lavinia Insalaco, Luisa Castellana, Stefania Cusenza, Gianni Pantuso, Antonio Russo, Viviana Bazan

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Isolation and complete genome analysis of neurotropic dengue virus serotype 3 from the cerebrospinal fluid of an encephalitis patient. by Rama Dhenni, Mulya Rahma Karyanti, Nina Dwi Putri, Benediktus Yohan, Frilasita A Yudhaputri, Chairin Nisa Ma'roef, Araniy Fadhilah, Aditya Perkasa, Restuadi Restuadi, Hidayat Trimarsanto, Irawan Mangunatmadja, Jeremy P Ledermann, Ronald Rosenberg, Ann M Powers, Khin Saw Aye Myint, R Tedjo Sasmono

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High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas by Ping Mei, C. Eric Freitag, Lai Wei, Yunxiang Zhang, Anil V. Parwani, Zaibo Li

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Efficient Peptide-Mediated In Vitro Delivery of Cas9 RNP by Oskar Gustafsson, Julia Rädler, Samantha Roudi, Tõnis Lehto, Mattias Hällbrink, Taavi Lehto, Dhanu Gupta, Samir EL Andaloussi, Joel Z. Nordin

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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation by Hae In Lee, Ahreum Kwon, Jung Hwan Suh, Han Saem Choi, Kyung Chul Song, Hyun Wook Chae, Ho-Seong Kim

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Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report by A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce

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An uncommon inborn error of immunity in an adolescent with Hodgkin lymphoma and bronchiectasis by Sangeetha Ramdas, Sidharth Totadri, Priyanka Medhi, Elanthenral Sigamani, Arun Kumar Arunachalam, Leni Grace Mathew

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Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma by Hitomi Ueno-Yokohata, Hajime Okita, Keiko Nakasato, Chikako Kiyotani, Motohiro Kato, Kimikazu Matsumoto, Nobutaka Kiyokawa, Atsuko Nakazawa, Takako Yoshioka

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Genetics and"democracy" by Federico Marchetti, Giovanni Corsello

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Evolution of <i>Helicobacter pylori</i> Resistance to Antibiotics: A Topic of Increasing Concern by Lyudmila Boyanova, Petyo Hadzhiyski, Raina Gergova, Rumyana Markovska

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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review by Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu

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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation by Ping Gu, Guojian Wang, Xue Gao, Dongyang Kang, Pu Dai, Shasha Huang

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Metanephric stromal tumor in an adult with PDGFRA mutation: a case report by Sanjun Guo, Huan Qian, Hong Zhu, Yue Yang, Xudan Yang, Huajun Sun

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