Search Results - "exome sequencing"

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis by Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

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Based on whole-exome sequencing to explore the rule of Herceptin and TKI resistance in breast cancer patients by Liantao Guo, Hong Cheng, Jianhua Liu, Weikang Shao, Lan Luo, Weijie Zheng, Shengrong Sun, Deguang Kong, Chuang Chen

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Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment by Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez, Francisco Javier Mejorado-Molano, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, María José Trujillo-Tiebas, Leandro Soriano-Guillén

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A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing by Chan Kim, Dajeong Lee, Jiwon Lee, Sung Yoon Cho, Jeehun Lee

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Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases by Vianey Ordoñez-Labastida, Luis Montes-Almanza, Froylan García-Martínez, Juan C. Zenteno

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Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion by Yazhou Wang, Xuepeng Chen, Dufei Zhang, Renwei Chen, Ailixiati Alifu

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Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a Mutation Detected Using Whole Exome Sequencing by Seong Bae Ahn, Sung Han Shim, Eun-Gyong Yoo, Mo Kyung Jung, Kyu Young Chae

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Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report by Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis

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Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa by Fozia Fozia, Fozia Fozia, Rubina Nazli, Nousheen Bibi, Sher Alam Khan, Noor Muhammad, Nafila Shakeeb, Saadullah Khan, Musharraf Jelani, Naveed Wasif, Naveed Wasif

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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) by Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung

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Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing by Hong Xuan, Chai Zhengjun, Han Yang, Chen Guohan

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Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene by Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets, Maire Peters

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Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing by Jinbo Xu, Wei Su, Yishan Wang, Yuanyuan Luo, Fuling Ye, Yanhong Xu, Lulu Chen, Hong Li

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Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center Study by Filip Milanovic, Sinisa Ducic, Milena Jankovic, Sanja Sindjic-Antunovic, Emilija Dubljanin-Raspopović, Milica Aleksic, Goran Djuricic, Dejan Nikolic

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Genomic signatures and prognosis of advanced stage Chinese pediatric T cell lymphoblastic lymphoma by whole exome sequencing by Qinglin Liu, Xiang Yu, Xiang Yu, Xiang Yu, Jinquan Wen, Nange Yin, Nange Yin, Nange Yin, Xin Liao, Xin Liao, Pinli Zou, Pinli Zou, Yuxia Guo, Yuxia Guo, Yuxia Guo, Lin Song, Lin Song, Jianwen Xiao, Jianwen Xiao, Jianwen Xiao

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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders by Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yongguo Yu

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Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy by Xianxian Liu, Hua Lai, Xiaoming Zeng, Siming Xin, Liju Nie, Zhenyi Liang, Meiling Wu, Yu Chen, Jiusheng Zheng, Yang Zou

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The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing by Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease by Christina Taylan, Andrea Wenzel, Andrea Wenzel, Florian Erger, Florian Erger, Heike Göbel, Lutz T. Weber, Bodo B. Beck, Bodo B. Beck

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Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis by Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Khouloud Zayoud, Mohamed Zouari, Mohamed Nabil Nessib, Rym Kéfi, Houda Yacoub-Youssef

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