Hasil Pencarian - Louise A Metherell

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  1. 1
    Adrenal Dysfunction in Mitochondrial Diseases

    Adrenal Dysfunction in Mitochondrial Diseases oleh Madeleine Corkery-Hayward, Louise A. Metherell

    Diterbitkan 2023-01-01
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  2. 2
    Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

    Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report oleh Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise A. Metherell

    Diterbitkan 2022-03-01
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  3. 3
    A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

    A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy oleh Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace

    Diterbitkan 2020-04-01
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  4. 4
    GENETIC DEFECTS IN THE GROWTH HORMONE-IGF-I AXIS CAUSING GROWTH HORMONE INSENSITIVITY AND IMPAIRED LINEAR GROWTH

    GENETIC DEFECTS IN THE GROWTH HORMONE-IGF-I AXIS CAUSING GROWTH HORMONE INSENSITIVITY AND IMPAIRED LINEAR GROWTH oleh Martin O. Savage, Vivian eHwa, Alessia eDavid, Ron G. Rosenfeld, Louise A. Metherell

    Diterbitkan 2011-12-01
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  5. 5
    Whole Exome Sequencing for the differential diagnosis of primary adrenal insufficiency in children

    Whole Exome Sequencing for the differential diagnosis of primary adrenal insufficiency in children oleh Li F Chan, Daniel C Campbell, Tatiana V Novoselova, Adrian JL Clark, Louise A Metherell

    Diterbitkan 2015-08-01
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  6. 6
    ACTH signalling and adrenal development: lessons from mouse models

    ACTH signalling and adrenal development: lessons from mouse models oleh Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark, Li F Chan

    Diterbitkan 2019-07-01
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  7. 7
    Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation

    Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation oleh Christopher J. Smith, Jack L. Williams, Charlotte Hall, Josefina Casas, Matthew P. Caley, Edel A. O'Toole, Rathi Prasad, Louise A. Metherell

    Diterbitkan 2023-04-01
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  8. 8
    GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

    GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients oleh Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell, Helen L Storr

    Diterbitkan 2020-03-01
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  9. 9
    Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

    Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation oleh Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa

    Diterbitkan 2018-05-01
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  10. 10
    Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

    Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells oleh Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti

    Diterbitkan 2018-01-01
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