खोज परिणाम - Taylor, Jenny C.
- प्रदर्शित 1 - 20 परिणाम 84
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Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study द्वारा Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth
प्रकाशित 2018मूलपाठ -
9
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation द्वारा Wells, Dagan, Kaur, Kulvinder, Grifo, Jamie, Glassner, Michael, Taylor, Jenny C, Fragouli, Elpida, Munne, Santiago
प्रकाशित 2014मूलपाठ -
10
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods द्वारा Shields, Adrian M., Pagnamenta, Alistair T., Pollard, Andrew J., Taylor, Jenny C., Allroggen, Holger, Patel, Smita Y.
प्रकाशित 2019मूलपाठ -
11
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease द्वारा Buchanan, James, Blair, Edward, Thomson, Kate L., Ormondroyd, Elizabeth, Watkins, Hugh, Taylor, Jenny C., Wordsworth, Sarah
प्रकाशित 2019मूलपाठ -
12
Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis द्वारा Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
प्रकाशित 2017मूलपाठ -
13
Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities द्वारा Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
प्रकाशित 2016मूलपाठ -
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“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th... द्वारा Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Judith, Knight, Julian C, Taylor, Jenny C, Taylor, John, Watkins, Hugh
प्रकाशित 2017मूलपाठ -
15
A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly द्वारा Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
प्रकाशित 2018मूलपाठ -
16
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing द्वारा Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
प्रकाशित 2022मूलपाठ -
17
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation द्वारा Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
प्रकाशित 2016मूलपाठ -
18
An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities द्वारा Palles, Claire, Fotheringham, Susan, Chegwidden, Laura, Lucas, Marie, Kerr, Rachel, Mozolowski, Guy, Rosmarin, Dan, Taylor, Jenny C., Tomlinson, Ian, Kerr, David
प्रकाशित 2021मूलपाठ -
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Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study द्वारा Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
प्रकाशित 2017मूलपाठ -
20
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA द्वारा Cutts, Anthony, Venn, Oliver, Dilthey, Alexander, Gupta, Avinash, Vavoulis, Dimitris, Dreau, Helene, Middleton, Mark, McVean, Gil, Taylor, Jenny C., Schuh, Anna
प्रकाशित 2017मूलपाठ