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Browse Gene mutations topic

Observations subtopic


1-18 out of 18 article(s)
Title Author Type Date Words
A Homozygous c.2536G>A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family. Latif, Zahid; Blasius, Kathrin; Tahir, Tufail Hussain; Khan, Muhammad Nasim; Ali, Ghazanfar; Abbasi, Report Dec 31, 2017 3074
Construction and Characteristic Analysis of Omp10 Deletion Mutant of Brucella abortus. Report Oct 31, 2017 4127
Exogenous Expressions of FTO Wild-Type and R316Q Mutant Proteins Caused an Increase in HNRPK Levels in 3T3-L1 Cells as Demonstrated by DIGE Analysis. Guzel, Nil; Kasap, Murat; Kanli, Aylin; Akpinar, Gurler; Gulkac, M. Dogan; Karaosmanoglu, Kubra Report Jan 1, 2017 5425
Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the HFE Gene. Luszczyk, Marcin; Kaczorowska-Hac, Barbara; Milosz, Ewa; Adamkiewicz-Drozynska, Elzbieta; Ziemann, E Report Jan 1, 2017 5282
Specific-Locus Amplified Fragment Sequencing Reveals Spontaneous Single-Nucleotide Mutations in Rice OsMsh6 Mutants. Cui, Hairui; Wu, Qiongyu; Zhu, Bin Report Jan 1, 2017 4457
Yield potency and adaptability of mutant rice genotype resulted from gamma ray irradiation at six locations of farmers' groups. Kadir, Abdul; Jahuddin, Rahmat; Buhaerah; Lestari, Endang Gati Report Jul 1, 2016 3729
Feasibility of low-throughput next generation sequencing for germline DNA screening. Sapari, Nur Sabrina; Elahi, Eiram; Wu, Mengchu; Loh, Marie; Ng, Hong Kiat; Han, Xiao; Yap, Hui Ling; Report Dec 1, 2015 6111
Frequency of Mutations in The GnRH Receptor Gene in Pakistani Patients With Hypogonadotropic Hypogonadism. Report Oct 31, 2015 3634
Evaluation of multiplex polymerase chain reaction assay for the detection of katG (S315T) gene mutation in Mycobacterium tuberculosis isolates from Puducherry, South India. Ravibalan, Thirumurugan; Samrot, Antony V.; Maruthai, Kathirvel; Kommoju, Vallayyachari; Kesavan, Su Report Sep 1, 2015 3650
Brain tumor mutations detected in cerebral spinal fluid. Pan, Wenying; Gu, Wei; Nagpal, Seema; Gephart, Melanie Hayden; Quake, Stephen R. Report Mar 1, 2015 5056
Clinical actionability enhanced through deep targeted sequencing of solid tumors. Chen, Ken; Meric-Bernstam, Funda; Zhao, Hao; Zhang, Qingxiu; Ezzeddine, Nader; Tang, Lin-ya; Qi, Yua Report Mar 1, 2015 5782
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART). Lv, Weigang; Wei, Xianda; Guo, Ruolan; Liu, Qin; Zheng, Yu; Chang, Jiazhen; Bai, Ting; Li, Haoxian; Report Jan 1, 2015 6016
Single-tube, highly parallel mutation enrichment in cancer gene panels by use of temperature-tolerant COLD-PCR. Castellanos-Rizaldos, Elena; Richardson, Katherine; Lin, Rui; Wu, Grant; Makrigiorgos, Mike G. Report Jan 1, 2015 5326
Quantitative cell-free circulating [BRAF.sup.V600E] mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Sanmamed, Miguel F.; Fernandez-Landazuri, Sara; Rodriguez, Carmen; Zarate, Ruth; Lozano, Maria D.; Z Report Jan 1, 2015 4657
Molecular Characterization of Multidrug-Resistant Isolates of Mycobacterium tuberculosis from Patients in Punjab, Pakistan. Khan, Sadiq Noor; Niemann, Stefan; Gulfraz, Muhammad; Qayyum, Mazhar; Siddiqi, Saima; Mirza, Zahid S Report Feb 28, 2013 5273
In Silico Analysis of Genes Implicated in Alopecia areata. Anjum, Iffat Farzana; Mir, Asif; Riaz, Naveeda Report Jun 30, 2011 4228
Human genes take evolutionary turns. Bower, B. Brief Article Jan 17, 2004 190
Sperm protein may lead to male pill. Travis, J. Brief Article Oct 13, 2001 626

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