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Refining the structure and content of clinical genomic reports.
Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, Fullerton SM, Tarczy-Hornoch P, Byers PH, Jarvik GP. Dorschner MO, et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. Epub 2014 Mar 10. Am J Med Genet C Semin Med Genet. 2014. PMID: 24616401 Free PMC article.
To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. ...The report format we developed to communicate research results can easily be transformed for …
To effectively articulate the results of exome and genome sequencing we refined the structure and content of mol …
Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Nav1.5 clarify the molecular basis of Brugada syndrome.
Yu G, Liu Y, Qin J, Wang Z, Hu Y, Wang F, Li Y, Chakrabarti S, Chen Q, Wang QK. Yu G, et al. J Biol Chem. 2018 Nov 23;293(47):18207-18217. doi: 10.1074/jbc.RA118.003997. Epub 2018 Oct 3. J Biol Chem. 2018. PMID: 30282806 Free PMC article.
Examination of MOG1's 3D structure revealed that Glu-83 and the loop containing Asp-148, Arg-150, and Ser-151 are spatially proximal, suggesting that these residues form a critical binding site for Na(v)1.5. In conclusion, our findings identify the structural
Examination of MOG1's 3D structure revealed that Glu-83 and the loop containing Asp-148, Arg-150, and Ser-151 are spatially pr …
Development and evaluation of a bladder Cancer specific survivorship care plan by patients and clinical care providers: a multi-methods approach.
Lee CT, Mohamed NE, Pisipati S, Shah QN, Agarwal PK, Downs TM, Droller M, Gilbert SM, Goltz HH, Hall SJ, Hendawi M, Hoffman-Censits J, O'Donnell M, Kaag M, Karsh LI, Kassouf W, Quale DZ, Sagalowsky A, Steinberg GD, Latini DM. Lee CT, et al. BMC Health Serv Res. 2020 Jul 24;20(1):686. doi: 10.1186/s12913-020-05533-7. BMC Health Serv Res. 2020. PMID: 32709234 Free PMC article.
Data analyses using the Atlas.ti program, informed refinement of the BC-SCP. In Phase III, we conducted feasibility testing of the refined BC-SCP with 18 providers from 12 health-centers. ...Providers reported that BC-SCP content was clear, did not ham …
Data analyses using the Atlas.ti program, informed refinement of the BC-SCP. In Phase III, we conducted feasibility testing of the …
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T. Pietrzak J, et al. J Appl Genet. 2007;48(2):167-75. doi: 10.1007/BF03194675. J Appl Genet. 2007. PMID: 17495351
In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. ...The BAC array results confirmed the molecular cytogenetic results and refined the b …
In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, …
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