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	21.	Cantú syndrome with coexisting familial pituitary adenoma. [electronic resource] by Marques, Pedro Spencer, Rupert Morrison, Patrick J Carr, Ian M Dang, Mary N Bonthron, David T Hunter, Steven Korbonits, Márta Producer: 20181026 In: Endocrine vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. [electronic resource] by Watson, Christopher M Stockdale, Claire Berry, Ian Crinnion, Laura A Carr, Ian M Cant, Andrew Bonthron, David T Savic, Sinisa Producer: 20200706 In: Journal of clinical immunology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms. [electronic resource] by Carr, Ian M Camm, Nick Taylor, Graham R Charlton, Ruth Ellard, Sian Sheridan, Eamonn G Markham, Alexander F Bonthron, David T Producer: 20110602 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. [electronic resource] by Antanaviciute, Agne Watson, Christopher M Harrison, Sally M Lascelles, Carolina Crinnion, Laura Markham, Alexander F Bonthron, David T Carr, Ian M Producer: 20160614 In: Bioinformatics (Oxford, England) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects. [electronic resource] by Pardo, Carolina E Carr, Ian M Hoffman, Christopher J Darst, Russell P Markham, Alexander F Bonthron, David T Kladde, Michael P Producer: 20110209 In: Nucleic acids research vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation. [electronic resource] by Batstone, Paul J Simpson, Sheila Bonthron, David T Keng, Wee T Hamilton, Doreen Forsyth, Linda Sales, Mark Pratt, Norman Goudie, David Producer: 20040106 In: American journal of medical genetics. Part A vol. 118A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Extensive gene conversion at the PMS2 DNA mismatch repair locus. [electronic resource] by Hayward, Bruce E De Vos, Michel Valleley, Elizabeth M A Charlton, Ruth S Taylor, Graham R Sheridan, Eamonn Bonthron, David T Producer: 20070621 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. [electronic resource] by Watson, Christopher M Crinnion, Laura A Harrison, Sally M Lascelles, Carolina Antanaviciute, Agne Carr, Ian M Bonthron, David T Sheridan, Eamonn Producer: 20170726 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. [electronic resource] by Watson, Christopher M Crinnion, Laura A Hewitt, Sarah Bates, Jennifer Robinson, Rachel Carr, Ian M Sheridan, Eamonn Adlard, Julian Bonthron, David T Producer: 20200722 In: Laboratory investigation; a journal of technical methods and pathology vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme. [electronic resource] by Diggle, Christine P Shires, Michael Leitch, Derek Brooke, David Carr, Ian M Markham, Alex F Hayward, Bruce E Asipu, Aruna Bonthron, David T Producer: 20090831 In: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Characterization and Genomic Localization of a SMAD4 Processed Pseudogene. [electronic resource] by Watson, Christopher M Camm, Nick Crinnion, Laura A Antanaviciute, Agne Adlard, Julian Markham, Alexander F Carr, Ian M Charlton, Ruth Bonthron, David T Producer: 20180606 In: The Journal of molecular diagnostics : JMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Identification of autosomal recessive disease loci using out-bred nuclear families. [electronic resource] by Carr, Ian M Diggle, Christine P Touqan, Nader Anwar, Rashida Sheridan, Eamonn G Bonthron, David T Johnson, Colin A Ali, Manir Markham, Alexander F Producer: 20120514 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Autozygosity mapping with exome sequence data. [electronic resource] by Carr, Ian M Bhaskar, Sanjeev O'Sullivan, James Aldahmesh, Mohammed A Shamseldin, Hanan E Markham, Alexander F Bonthron, David T Black, Graeme Alkuraya, Fowzan S Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. [electronic resource] by Watson, Christopher M Camm, Nick Crinnion, Laura A Clokie, Samuel Robinson, Rachel L Adlard, Julian Charlton, Ruth Markham, Alexander F Carr, Ian M Bonthron, David T Producer: 20180621 In: Molecular diagnosis & therapy vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	m6aViewer: software for the detection, analysis, and visualization of [electronic resource] by Antanaviciute, Agne Baquero-Perez, Belinda Watson, Christopher M Harrison, Sally M Lascelles, Carolina Crinnion, Laura Markham, Alexander F Bonthron, David T Whitehouse, Adrian Carr, Ian M Producer: 20171019 In: RNA (New York, N.Y.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Detection of somatic mutations in tumors using unaligned clonal sequencing data. [electronic resource] by Sutton, Kate M Crinnion, Laura A Wallace, David Harrison, Sally Roberts, Paul Watson, Christopher M Markham, Alexander F Bonthron, David T Quirke, Philip Carr, Ian M Producer: 20141209 In: Laboratory investigation; a journal of technical methods and pathology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. [electronic resource] by Giancane, Gabriella Diggle, Christine P Legger, Elizabeth G Tekstra, Janneke Prakken, Berent Brenkman, Arjan B Carr, Ian M Markham, Alexander F Bonthron, David T Wulffraat, Nico Producer: 20160819 In: The Journal of rheumatology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Illuminator, a desktop program for mutation detection using short-read clonal sequencing. [electronic resource] by Carr, Ian M Morgan, Joanne E Diggle, Christine P Sheridan, Eamonn Markham, Alexander F Logan, Clare V Inglehearn, Chris F Taylor, Graham R Bonthron, David T Producer: 20120123 In: Genomics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. [electronic resource] by Watson, Christopher M Crinnion, Laura A Berry, Ian R Harrison, Sally M Lascelles, Carolina Antanaviciute, Agne Charlton, Ruth S Dobbie, Angus Carr, Ian M Bonthron, David T Producer: 20160511 In: BMC medical genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	A proposal for a new classification of complications in craniosynostosis surgery. [electronic resource] by Shastin, Dmitri Peacock, Sharron Guruswamy, Velu Kapetanstrataki, Melpo Bonthron, David T Bellew, Maggie Long, Vernon Carter, Lachlan Smith, Ian Goodden, John Russell, John Liddington, Mark Chumas, Paul Producer: 20170612 In: Journal of neurosurgery. Pediatrics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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