Hasil Pencarian - Kevin Colclough

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  1. 1
    Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report

    Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report oleh Jean Claude Katte, Mesmin Y. Dehayem, Kevin Colclough, Eugene Sobngwi

    Diterbitkan 2024-10-01
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  2. 2
    Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

    Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases oleh Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A. Patel, Merih Berberoğlu

    Diterbitkan 2023-03-01
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  3. 3
    Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

    Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation oleh Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods, Maria Byrne

    Diterbitkan 2020-04-01
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  4. 4
    Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand

    Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand oleh Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Craig Jefferies, Rinki Murphy

    Diterbitkan 2023-03-01
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  5. 5
    Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved]

    Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved] oleh Matthew N. Wakeling, Thomas W. Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple

    Diterbitkan 2020-01-01
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  6. 6
    Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies.

    Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. oleh Anna M Steele, Kirsty J Wensley, Sian Ellard, Rinki Murphy, Maggie Shepherd, Kevin Colclough, Andrew T Hattersley, Beverley M Shields

    Diterbitkan 2013-01-01
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  7. 7
    Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

    Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series oleh Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan

    Diterbitkan 2020-12-01
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  8. 8
    HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

    HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood oleh Shazia Adalat, Wesley N. Hayes, William A. Bryant, John Booth, Adrian S. Woolf, Robert Kleta, Sandra Subtil, Rhian Clissold, Kevin Colclough, Sian Ellard, Detlef Bockenhauer

    Diterbitkan 2019-09-01
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  9. 9
    Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis

    Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis oleh Beverley M. Shields, Annelie Carlsson, Kashyap Patel, Julieanne Knupp, Akaal Kaur, Des Johnston, Kevin Colclough, Helena Elding Larsson, Gun Forsander, Ulf Samuelsson, Andrew Hattersley, Johnny Ludvigsson

    Diterbitkan 2024-05-01
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  10. 10
    Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

    Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance oleh Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon

    Diterbitkan 2017-10-01
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  11. 11
    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion oleh Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn

    Diterbitkan 2023-10-01
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