检索结果 - Fiona MacDonald

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  1. 1
    INDUCIBLE PROTEINASE OF CANDIDA ALBICANS IN DIAGNOSTIC SEROLOGY AND IN THE PATHOGENESIS OF SYSTEMIC CANDIDOSIS

    INDUCIBLE PROTEINASE OF CANDIDA ALBICANS IN DIAGNOSTIC SEROLOGY AND IN THE PATHOGENESIS OF SYSTEMIC CANDIDOSIS 由 Fiona MacDonald, Frank C. Odds

    出版 1980
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  2. 2
    Virulence For Mice Of A Proteinase-Secreting Strain Of Candida Albicans And A Proteinase-Deficient Mutant

    Virulence For Mice Of A Proteinase-Secreting Strain Of Candida Albicans And A Proteinase-Deficient Mutant 由 Fiona MacDonald, Frank C. Odds

    出版 1983
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  3. 3
    A systematic review of psychosocial interventions for children and young people with epilepsy

    A systematic review of psychosocial interventions for children and young people with epilepsy 由 Fiona MacDonald Corrigan, Helen Broome, Liam Dorris

    出版 2016
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  4. 4
    The impact of anticipated stigma on psychological and physical health problems in the unemployed group

    The impact of anticipated stigma on psychological and physical health problems in the unemployed group 由 Aisling T. O’Donnell, Fiona MacDonald Corrigan, Stephen Gallagher

    出版 2015
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  5. 5
    Fragile X syndrome is less common than previously estimated.

    Fragile X syndrome is less common than previously estimated. 由 Jenny Morton, Sarah Bundey, T. Webb, Fiona MacDonald, P M Rindl, Sarah Bullock

    出版 1997
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  6. 6
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma

    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma 由 Emma R. Woodward, Kerry Wall, J.R.L. Forsyth, Fiona MacDonald, Eamonn R. Maher

    出版 2007
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  7. 7
    Genotype-phenotype correlations in von Hippel-Lindau disease

    Genotype-phenotype correlations in von Hippel-Lindau disease 由 Kai Ren Ong, Emma R. Woodward, Pip Killick, Caron Lim, Fiona MacDonald, Eamonn R. Maher

    出版 2006
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  8. 8
    Characterization of Thermodynamic Diversity between Transmissible Spongiform Encephalopathy Agent Strains and Its Theoretical Implications

    Characterization of Thermodynamic Diversity between Transmissible Spongiform Encephalopathy Agent Strains and Its Theoretical Implications 由 Robert A. Somerville, Fiona MacDonald, David Taylor, Alan G. Dickinson, Radulf C. Oberthür, U. Havekost

    出版 2002
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  9. 9
    Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

    Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities 由 Gina M. Grimshaw, Ala Szczepura, M.A. Hultén, Fiona MacDonald, N C Nevin, F. Sutton, S Dhanjal

    出版 2003
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  10. 10
    Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

    Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage 由 Michael Parks, Samantha Court, Siobhán Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen

    出版 2016
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  11. 11
    Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

    Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects 由 Abdulla Ibrahim, Gail Kirby, Carol Hardy, Renuka Dias, Louise Tee, Derek Lim, Jonathan Berg, Fiona MacDonald, Peter Nightingale, Eamonn R. Maher

    出版 2014
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  12. 12
    Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

    Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage 由 Michael Parks, Samantha Court, Benjamin Bowns, Siobhán Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen

    出版 2017
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  13. 13
    Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

    Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology 由 Louise Tee, Derek Lim, Renuka Dias, Marie-Odile Baudement, A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona MacDonald, Eamonn R. Maher

    出版 2013
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  14. 14
    Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

    Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperpl... 由 Nils Krone, Ian T. Rose, Debbie Willis, James Hodson, Sarah H. Wild, Emma J. Doherty, Stefanie Hahner, Silvia Parajes, Roland H. Stimson, Thang S. Han, Paul Carroll, Gerry Conway, Brian R. Walker, Fiona MacDonald, Richard Ross, Wiebke Arlt

    出版 2013
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  15. 15
    Epigenotype-phenotype correlations in Silver-Russell syndrome

    Epigenotype-phenotype correlations in Silver-Russell syndrome 由 Emma Wakeling, S. A. Amero, Mariëlle Alders, Jet Bliek, Elizabeth Forsythe, Sudhesh Kumar, Derek Lim, Fiona MacDonald, Deborah Mackay, Eamonn R. Maher, Gudrun E. Moore, RL Poole, S. M. Price, Trine Tangeraas, C. L. S. Turner, Mieke M. van Haelst, Catherine Willoughby, I. Karen Temple, J. M. Cobben

    出版 2010
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  16. 16
    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma 由 Eleanor Rattenberry, Lindsey Vialard, Anna C. Y. Yeung, Hayley Bair, Kirsten McKay, Mariam Jafri, Natalie Canham, Trevor Cole, Judit Dénes, Shirley V. Hodgson, Richard Irving, Louise Izatt, Márta Korbonits, Ajith Kumar, Fiona Lalloo, Patrick J. Morrison, Emma R. Woodward, Fiona MacDonald, Yvonne Wallis, Eamonn R. Maher

    出版 2013
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  17. 17
    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome 由 Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth M. Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun E. Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R. Maher, Marcel M.A.M. Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Mackay, Thomas Eggermann

    出版 2016
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  18. 18
    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>

    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i> 由 Christopher J. Ricketts, Julia Forman, Eleanor Rattenberry, Nicola Bradshaw, Fiona Lalloo, Louise Izatt, Trevor Cole, Ruth Armstrong, V K Ajith Kumar, Patrick J. Morrison, A. Brew Atkinson, Fiona Douglas, Steve Ball, Jackie Cook, Umasuthan Srirangalingam, Pip Killick, Gail Kirby, Simon Aylwin, Emma R. Woodward, D. Gareth Evans, Shirley V. Hodgson, V Murday, Shern L. Chew, John Connell, Tom L. Blundell, Fiona MacDonald, Eamonn R. Maher

    出版 2009
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  19. 19
    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... 由 Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher

    出版 2012
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  20. 20
    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome 由 Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie‐Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzalès, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie‐Christine Dauge, J. Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Ménez, A. M. Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Münnich, Stanislas Lyonnet, Marie‐Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach

    出版 2007
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