Search Results - "next generation sequencing"

BRCA mutation in high grade epithelial ovarian cancers by Tarinee Manchana, Natacha Phoolcharoen, Patou Tantbirojn

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A novel antimüllerian gene mutation in a woman with high antral follicle count and extremely low serum antimüllerian hormone levels by Laura Melado, M.D., Ph.D, Barbara Lawrenz, M.D., Ph.D, Jonalyn Edades, B.S, Ajay Kumar, Ph.D, Human Fatemi, M.D., Ph.D

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Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses by Carsten Bergmann, Carsten Bergmann

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Clinical Features and Treatment Efficacy in Mutation-Related Epileptic Encephalopathy in the Infant by Chung Mo Koo, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang

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Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis by Gargi Ramesh Rekhawar, M. P. Bhavana, Vishal Dnyaneshwar Sawant, Sushma Save, Alpana Kondekar

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Real-time application of ITS and D1-D3 nanopore amplicon metagenomic sequencing in fungal infections: Enhancing fungal infection diagnostics by Seondeuk Kim, Narae Kim, Wan Beom Park, Chang Kyung Kang, Jae Hyeon Park, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Sang Kun Lee, Jangsup Moon, Kon Chu

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PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report by Maria Cristina Maggio, Isabella Ceccherini, Alice Grossi, Marco Gattorno, Giovanni Corsello

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Curcumin and Novel Synthetic Analogs in Cell-Based Studies of Alzheimer's Disease by Stella Gagliardi, Valentina Franco, Valentina Franco, Stefano Sorrentino, Susanna Zucca, Cecilia Pandini, Cecilia Pandini, Paola Rota, Paola Rota, Stefano Bernuzzi, Alfredo Costa, Alfredo Costa, Elena Sinforiani, Orietta Pansarasa, John R. Cashman, Cristina Cereda

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Metaphase II (MII) human oocytes with smooth endoplasmic reticulum clusters do not affect blastocyst euploid rate by Christine Shan-Chi Chiu, Tzu-Yu Hung, Ming-Huei Lin, Robert Kuo-Kuang Lee, Yu-Wen Weng, Yuh-Ming Hwu

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Paternal advanced age and sperm quality are indicators for Preimplantation Genetic Testing in egg donation cycles by Jeimy Pedraza, Hugo Sierra, Jacqueline Cordero, Esther López-Bayghen

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Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis by Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, Anna Cristina Tomaiuolo, Silvia Genovese, Simona Grotta, Maria Gnazzo, Stefano Petrocchi, Laura Ciocca, Federico Alghisi, Enza Montemitro, Luigi Martemucci, Ausilia Elce, Vincenzina Lucidi, Giuseppe Castaldo, Adriano Angioni

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Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review by Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi, Frenny Sheth

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Robust home brew fragment sizing assay for detection of MET exon 14 skipping mutation in non-small cell lung cancer patients in resource constrained community hospitals by Anurag Mehta, Shrinidhi Nathany, Aanchal Chopra, Sakshi Mattoo, Dushyant Kumar, Manoj Kumar Panigrahi

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Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mut... by Rachel K. Cason, Anna Williams, Megan Chryst-Stangl, Guanghong Wu, Kinsie Huggins, Kaye E. Brathwaite, Brandon M. Lane, Larry A. Greenbaum, Vivette D. D'Agati, Rasheed A. Gbadegesin

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease by Lieber Daniel S, Vafai Scott B, Horton Laura C, Slate Nancy G, Liu Shangtao, Borowsky Mark L, Calvo Sarah E, Schmahmann Jeremy D, Mootha Vamsi K

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Regulation of microRNA with food. Part 1. Food of plant origin by A.E. Abaturov, V.L. Babуch

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A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review by Zhenkun Zhang, Xiaofan Bie, Zhehui Chen, Jing Liu, Zhenhua Xie, Xian Li, Mengjun Xiao, Qiang Zhang, Yaodong Zhang, Yanling Yang, Dongxiao Li

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Conjugate-SELEX: A High-throughput Screening of Thioaptamer-liposomal Nanoparticle Conjugates for Targeted Intracellular Delivery of Anticancer Drugs by Qingshan Mu, Akshaya Annapragada, Mayank Srivastava, Xin Li, Jean Wu, Varatharasa Thiviyanathan, Hongyu Wang, Alexander Williams, David Gorenstein, Ananth Annapragada, Nadarajah Vigneswaran

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A de novo ANK1 mutation associated to hereditary spherocytosis: a case report by Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-Hui Yang, Na Li, Yue-Huang Yang, Xian-Wen Zhang, Xin Tian

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Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models by María Rosa López-Huertas, Matías Morín, Nadia Madrid-Elena, Carolina Gutiérrez, Laura Jiménez-Tormo, Javier Santoyo, Francisco Sanz-Rodríguez, Miguel Ángel Moreno Pelayo, Laura García Bermejo, Santiago Moreno

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