Publications by authors named "Freddie Sharkey"

16Publications

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

Am J Med Genet A 2015 May 21;167A(5):1134-41. Epub 2015 Mar 21.

Department of Pediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.36978DOI Listing
May 2015

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Eur J Hum Genet 2014 Mar 17;22(3):338-43. Epub 2013 Jul 17.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ejhg.2013.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925275PMC
March 2014

The degradation of n-hexadecane in soil by thermophilic geobacilli.

FEMS Microbiol Ecol 2006 Apr;56(1):44-54

School of Biomedical Sciences, University of Ulster, Coleraine, Northern Ireland, UK.

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http://dx.doi.org/10.1111/j.1574-6941.2006.00061.xDOI Listing
April 2006

Quantitative effects of carbohydrates and aromatic amino acids on Clostridium botulinum toxin gene expression using a rapid competitive RT/PCR assay.

J Mol Microbiol Biotechnol 2005 ;9(1):35-43

MRC, Human Genetics Unit, Western General Hospital, Edinburgh, Scotland.

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http://dx.doi.org/10.1159/000088144DOI Listing
January 2006

Detection and quantification of gene expression in environmental bacteriology.

Appl Environ Microbiol 2004 Jul;70(7):3795-806

School of Biomedical Sciences, University of Ulster, Coleraine, County Londonderry BT52 1SA, Northern Ireland.

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http://dx.doi.org/10.1128/AEM.70.7.3795-3806.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC444812PMC
July 2004

A rapid and effective method of extracting fully intact RNA from thermophilic geobacilli that is suitable for gene expression analysis.

Extremophiles 2004 Feb 13;8(1):73-7. Epub 2003 Nov 13.

School of Biological and Environmental Sciences, University of Ulster, BT52 1SA, Coleraine, Co. Londonderry, UK.

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http://link.springer.com/content/pdf/10.1007/s00792-003-0363
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http://link.springer.com/10.1007/s00792-003-0363-2
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http://dx.doi.org/10.1007/s00792-003-0363-2DOI Listing
February 2004

Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR.

FEMS Microbiol Lett 2004 Mar;232(2):139-44

School of Biological and Environmental Sciences, University of Ulster, Cromore Road, Coleraine, Co. Derry BT52 1SA, UK.

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http://dx.doi.org/10.1016/S0378-1097(04)00043-6DOI Listing
March 2004