Showing 1 - 6 results of 6 for search 'Jayne A L Houghton', query time: 0.02s Refine Results
  1. 1
    Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

    Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene by Marta Zegre Amorim, Jayne A. L. Houghton, Sara Carmo, Inês Salva, Ana Pita, Luis Pereira-da-Silva

    Published 2015-01-01
    Get full text
    Article
  2. 2
    Congenital hyperinsulinism in the Ukraine: a 10-year national study

    Congenital hyperinsulinism in the Ukraine: a 10-year national study by Evgenia Globa, Henrik Thybo Christesen, Michael Bau Mortensen, Jayne A. L. Houghton, Anne Lerberg Nielsen, Sönke Detlefsen, Sarah E. Flanagan

    Published 2024-12-01
    Get full text
    Article
  3. 3
    Accurate and cost-effective generation of a genetic risk score direct from blood lysates

    Accurate and cost-effective generation of a genetic risk score direct from blood lysates by Jonathan M. Locke, Benjamin Spurrier, Thomas W. Laver, Jayne A.L. Houghton, Kevin Colclough, Michael N. Weedon, Richard A. Oram

    Published 2024-12-01
    Get full text
    Article
  4. 4
    Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing

    Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing by Sarah E. Flanagan, Isabella-Anna Lazaridi, Jonna M. E. Männistö, Jonna M. E. Männistö, Jasmin J. Bennett, Oguzhan Kalyon, Matthew B. Johnson, Matthew N. Wakeling, Jayne A. L. Houghton, Thomas W. Laver

    Published 2025-02-01
    Get full text
    Article
  5. 5
    Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes

    Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes by A Shaikh, J Dhivyalakshmi, A Kulkarni, Sarah E Flanagan, Andrew T Hattersley, C Alves, A Khadilkar, V Khadilkar, J Wolf, C Oza, A Ozdemir, Z Imane, Evgenia Globa, Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Matthew N Wakeling, Kashyap Amratlal Patel, Elisa De Franco, P K Varthakavi, V Skrabic, I Unic, M Amoli, V Thiruvengadam, B Haliloglu, M Yildiz, N Elbarbary

    Published 2024-11-01
    Get full text
    Article
  6. 6
    Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

    Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity by Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan

    Published 2025-03-01
    Get full text
    Article

Search Tools: