Search Results - "mutation"

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes by Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson

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Trastornos autoinflamatorios de la queratinización by A. Peña-Rosado, N. Riera-Martí, V. Expósito-Serrano, J. Romaní

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EFFECTIVENESS AND SAFETY OF FAVIPIRAVIR INFUSION IN PATIENTS HOSPITALIZED WITH COVID-19 by L. A. Balykova, K. Ya. Zaslavskaya, V. F. Pavelkina, N. A. Pyataev, N. M. Selezneva, N. V. Kirichenko, A. Yu. Ivanova, G. V. Rodoman, K. B. Kolontarev, K. S. Skrupsky, E. N. Simakina, O. A. Mubarakshina, A. V. Taganov, D. Yu. Pushkar

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p. K832R and p. T991T polymorphisms' analysis in Cuban patients with clinical diagnosis of Wilson's disease by yulia Clark Feoktistova, Caridad Ruenes Domech, Elsa F. García Bacallao, Hilda Roblejo Balbuena, Zoe Robaina Jiménez, Estela Morales Peralta

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Antimicrobial Susceptibility Pattern of <i>Salmonella</i> spp. Isolated from Enteric Fever Patients in Nepal by Anu Maharjan, Binod Dhungel, Anup Bastola, Upendra Thapa Shrestha, Nabaraj Adhikari, Megha Raj Banjara, Binod Lekhak, Prakash Ghimire, Komal Raj Rijal

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Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia by Abdulaziz S. AlSaman, Fouad Al Ghamdi, Ahmed K. Bamaga, Ahmed K. Bamaga, Nahla AlShaikh, Nahla AlShaikh, Nahla AlShaikh, Mohammed Al Muqbil, Mohammed Al Muqbil, Mohammed Al Muqbil, Osama Muthaffar, Osama Muthaffar, Fahad A. Bashiri, Baleegh Ali, Arzu Mulayim, Elena Heider, Abdullah A. Alshahrani, Mohammed A. Al Muhaizea

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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN) by Shatavisha Dasgupta, Senada Koljenović, Thierry P. P. van den Bosch, Sigrid M. A. Swagemakers, Nick M. A. van der Hoeven, Ronald van Marion, Peter J. van der Spek, Helena C. van Doorn, Folkert J. van Kemenade, Patricia C. Ewing-Graham

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Verification of genes differentially expressed in neuroblastoma tumours: a study of potential tumour suppressor genes by Kogner Per, Nilsson Staffan, Carén Helena, Bergman Annika, Thorell Kaisa, Martinsson Tommy, Abel Frida

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Health care resource use among patients with advanced non-small cell lung cancer: the PIvOTAL retrospective observational study by Dae Ho Lee, Hiroshi Isobe, Hubert Wirtz, Sabina Bandeira Aleixo, Phillip Parente, Filippo de Marinis, Min Huang, Ashwini Arunachalam, Smita Kothari, Xiting Cao, Nello Donnini, Ann-Marie Woodgate, Javier de Castro

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Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensi... by Ting Lei, Zhiyi Shen, Mengjia Shen, Lingfang Du, Yongqiang Shi, Yan Peng, Zidi Zhou, Wenyue Da, Xi Chen, Qing Li

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Cystic fibrosis and neonatal screening Fibrose cística e a triagem neonatal by Roberta Rodrigues, Carmen S. Gabetta, Karla P. Pedro, Fabio Valdetaro, Maria I. M. Fernandes, Patrícia K. R. Magalhães, José N. Januário, Léa M. Z. Maciel

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Effect of Chinese Herbal Medicine Therapy on Risks of Overall, Diabetes-Related, and Cardiovascular Diseases-Related Mortalities in Taiwanese Patients With Hereditary Hemolytic Ane... by Mu-Lin Chiu, Mu-Lin Chiu, Jian-Shiun Chiou, Jian-Shiun Chiou, Chao-Jung Chen, Chao-Jung Chen, Wen-Miin Liang, Fuu-Jen Tsai, Fuu-Jen Tsai, Fuu-Jen Tsai, Fuu-Jen Tsai, Yang-Chang Wu, Ting-Hsu Lin, Chiu-Chu Liao, Shao-Mei Huang, Chen-Hsing Chou, Chen-Hsing Chou, Cheng-Wen Lin, Cheng-Wen Lin, Te-Mao Li, Yu-Lung Hsu, Yu-Lung Hsu, Ying-Ju Lin, Ying-Ju Lin

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Deficiency of Mineralization-Regulating Transcription Factor Trps1 Compromises Quality of Dental Tissues and Increases Susceptibility to Dental Caries by Mairobys Socorro, Priyanka Hoskere, Catherine Roberts, Lyudmila Lukashova, Kostas Verdelis, Kostas Verdelis, Kostas Verdelis, Elia Beniash, Elia Beniash, Dobrawa Napierala, Dobrawa Napierala

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A nutraceutical product, extracted from Cannabis sativa, modulates voltage-gated sodium channel function by Carol J. Milligan, Lyndsey L. Anderson, Michael T. Bowen, Samuel D. Banister, Iain S. McGregor, Jonathon C. Arnold, Steven Petrou

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Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient by Qiang Ma, Yixian Guo, Xiaoxi Lan, Guoxiang Wang, Wanling Sun

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Identification of potential biomarkers related to glioma survival by gene expression profile analysis by Justin Bo-Kai Hsu, Tzu-Hao Chang, Gilbert Aaron Lee, Tzong-Yi Lee, Cheng-Yu Chen

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TUSC3, p53 and p21 genetic association with development of oral submucous fibrosis and oral squamous cell carcinoma among addictive tobacco chewers of Pakistan by Syed Aqib Ali Zaidi, Nadia Chughtai, Zubair Ahmed Abbassi, Jehan Alam, Tuba Shakil Malick, Asmat Salim, Saima Saleem

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Multivariate transcriptome analysis identifies networks and key drivers of chronic lymphocytic leukemia relapse risk and patient survival by Ti'ara L. Griffen, Eric B. Dammer, Courtney D. Dill, Kaylin M. Carey, Corey D. Young, Sha'Kayla K. Nunez, Adaugo Q. Ohandjo, Steven M. Kornblau, James W. Lillard

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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case... by Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren, Elise Gradhand

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Novel Diagnostic and Therapeutic Options for KMT2A-Rearranged Acute Leukemias by Bruno A. Lopes, Caroline Pires Poubel, Caroline Pires Poubel, Cristiane Esteves Teixeira, Aurélie Caye-Eude, Aurélie Caye-Eude, Hélène Cavé, Hélène Cavé, Claus Meyer, Rolf Marschalek, Mariana Boroni, Mariana Emerenciano

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