Transparent Things: A Cabinet

Por Williams, Maggie M., Overbey, Karen Eileen
Publicado em 2013

A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene...

Por Papachristoforou, Rena, Petrou, Petros P., Sawyer, Hilary, Williams, Maggie, Drousiotou, Anthi
Publicado em 2013

OP29 NEXT GENERATION SEQUENCING : A COMPREHENSIVE GENETIC TEST TO PROVIDE DIAGNOSTIC, PROGNOSTIC AND PREDICTIVE INFORMATION IN BRAIN TUMOUR SAMPLES

Por Lewis, Rebecca, Greenslade, Mark, Faulkner, Claire, Ellis, Hayley, Kurian, Kathreena, Williams, Maggie
Publicado no Neuro Oncol (2015)

MicroRNAs-Based Inter-Domain Communication between the Host and Members of the Gut Microbiome

Por Williams, Maggie R., Stedtfeld, Robert D., Tiedje, James M., Hashsham, Syed A.
Publicado no Front Microbiol (2017)

Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger...

Por Rajatileka, Shavanthi, Luyt, Karen, Williams, Maggie, Harding, David, Odd, David, Molnár, Elek, Váradi, Anikó
Publicado em 2014

Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue

Por Rajatileka, Shavanthi, Luyt, Karen, El-Bokle, Manal, Williams, Maggie, Kemp, Helena, Molnár, Elek, Váradi, Anikó
Publicado em 2013

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

Por Leigh, Sarah, Futema, Marta, Whittall, Ros, Taylor-Beadling, Alison, Williams, Maggie, den Dunnen, Johan T, Humphries, Steve E
Publicado no J Med Genet (2017)

On-filter direct amplification of Legionella pneumophila for rapid assessment of its abundance and viability

Por Samhan, Farag A., Stedtfeld, Tiffany M., Waseem, Hassan, Williams, Maggie R., Stedtfeld, Robert D., Hashsham, Syed A.
Publicado no Water Res (2017)

Modeling Hybridization Kinetics of Gene Probes in a DNA Biochip Using FEMLAB

Por Munir, Ahsan, Waseem, Hassan, Williams, Maggie R., Stedtfeld, Robert D., Gulari, Erdogan, Tiedje, James M., Hashsham, Syed A.
Publicado no Microarrays (Basel) (2017)

Thirty-minute screening of antibiotic resistance genes in bacterial isolates with minimal sample preparation in static self-dispensing 64 and 384 assay cards

Por Kostić, Tanja, Ellis, Michael, Williams, Maggie R., Stedtfeld, Tiffany M., Kaneene, John B., Stedtfeld, Robert D., Hashsham, Syed A.
Publicado no Appl Microbiol Biotechnol (2015)

Most Probable Number - Loop Mediated Isothermal Amplification (MPN-LAMP) for Quantifying Waterborne Pathogens in Less Than 25 Minutes

Por Ahmad, Farhan, Stedtfeld, Robert D., Waseem, Hassan, Williams, Maggie R., Cupples, Alison M., Tiedje, James M., Hashsham, Syed A.
Publicado no J Microbiol Methods (2016)

Clinical utility gene card for: Cantú syndrome

Por Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K
Publicado no Eur J Hum Genet (2017)

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Por Sen, Ethan S, Dean, Philip, Yarram-Smith, Laura, Bierzynska, Agnieszka, Woodward, Geoff, Buxton, Chris, Dennis, Gemma, Welsh, Gavin I, Williams, Maggie, Saleem, Moin A
Publicado no J Med Genet (2017)

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Por Weedon, Michael N., Hastings, Robert, Caswell, Richard, Xie, Weijia, Paszkiewicz, Konrad, Antoniadi, Thalia, Williams, Maggie, King, Cath, Greenhalgh, Lynn, Newbury-Ecob, Ruth, Ellard, Sian
Publicado em 2011

Isothermal amplification of environmental DNA (eDNA) for direct field-based monitoring and laboratory confirmation of Dreissena sp.

Por Williams, Maggie R., Stedtfeld, Robert D., Engle, Cathrine, Salach, Paul, Fakher, Umama, Stedtfeld, Tiffany, Dreelin, Erin, Stevenson, R. Jan, Latimore, Jo, Hashsham, Syed A.
Publicado no PLoS One (2017)

TCDD influences reservoir of antibiotic resistance genes in murine gut microbiome

Por Stedtfeld, Robert D., Stedtfeld, Tiffany M., Fader, Kelly A., Williams, Maggie R., Bhaduri, Prianca, Quensen, John, Zacharewski, Timothy R., Tiedje, James M., Hashsham, Syed A.
Publicado no FEMS Microbiol Ecol (2017)

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2014)

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2015)

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

Por Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David N., Upadhyaya, Meena, Chuzhanova, Nadia
Publicado no Hum Genomics (2015)

Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm Infants

Por Rajatileka, Shavanthi, Odd, David, Robinson, Matthew T., Spittle, Alexandra C., Dwomoh, Louis, Williams, Maggie, Harding, David, Wagstaff, Miles, Owen, Marie, Crosby, Charlene, Ching, Jared, Molnár, Elek, Luyt, Karen, Váradi, Anikó
Publicado no Mol Neurobiol (2017)