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Browse Exome sequencing topic

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1-13 out of 13 article(s)
Title Author Type Date Words
Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families. Report Feb 28, 2019 4120
New Mutation of Coenzyme Q[sub]10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient. Song, Cheng-Cheng; Hong, Quan; Geng, Xiao-Dong; Wang, Xu; Wang, Shu-Qiang; Cui, Shao-Yuan; Guo, Man- Report Nov 20, 2018 5356
Whole Exome Sequencing as a Diagnostic Tool for Genetic Disorders in Pakistan. Report Jun 30, 2018 971
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome. Atik, Tahir; Isik, Esra; Ozen, Samim; Akgun, Bilcag; Onay, Huseyin; Cogulu, Ozgur; Erguner, Bekir; S Case study Jun 1, 2017 319
Identification of Quantitative Trait Loci That Determine Plasma Total-Cholesterol and Triglyceride Concentrations in DDD/Sgn and C57BL/6J Inbred Mice. Suto, Jun-ichi; Kojima, Misaki Report Jan 1, 2017 6848
ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data. Kong, Jinhwa; Shin, Jaemoon; Won, Jungim; Lee, Keonbae; Lee, Unjoo; Yoon, Jeehee Report Jan 1, 2017 8199
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. Liu, Hong-Yan; Xiao, Ji-Fang; Huang, Jia; Wang, Yue; Wu, Dong; Li, Tao; Wang, Hong-Dan; Guo, Liang-J Report Jan 1, 2017 2785
Whole-Exome Sequencing-Based Mutational Profiling of Hepatitis B Virus-Related Early-Stage Hepatocellular Carcinoma. Zhan, Hao; Jiang, Jiahao; Sun, Qiman; Ke, Aiwu; Hu, Jinwu; Hu, Zhiqiang; Zhu, Kai; Luo, Chubin; Ren, Report Jan 1, 2017 4054
Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. Kulecka, Maria; Habior, Andrzej; Paziewska, Agnieszka; Goryca, Krzysztof; Dabrowska, Michalina; Ambr Report Jan 1, 2017 6111
A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes. Guo, Bi-Rong; Li, Cong-Sheng; Zhu, Qi-Ming; Xu, Kang; Pan, Wei; Jiang, Peng Case study Jul 20, 2016 770
Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing. Lyu, Nan; Guan, Li-Li; Ma, Hong; Wang, Xi-Jin; Wu, Bao-Ming; Shang, Fan-Hong; Wang, Dan; Wen, Hong; Report Jun 1, 2016 4155
Cancer. Brief article Mar 1, 2013 220
NIH researchers complete whole-exome sequencing of skin cancer. Apr 15, 2011 136

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