Kết quả tìm kiếm - Fiona MacDonald
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Virulence For Mice Of A Proteinase-Secreting Strain Of Candida Albicans And A Proteinase-Deficient Mutant Bằng Fiona MacDonald, Frank C. Odds
Được phát hành 1983Artigo -
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A systematic review of psychosocial interventions for children and young people with epilepsy Bằng Fiona MacDonald Corrigan, Helen Broome, Liam Dorris
Được phát hành 2016Revisão -
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Fragile X syndrome is less common than previously estimated. Bằng Jenny Morton, Sarah Bundey, T. Webb, Fiona MacDonald, P M Rindl, Sarah Bullock
Được phát hành 1997Artigo -
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Genotype-phenotype correlations in von Hippel-Lindau disease Bằng Kai Ren Ong, Emma R. Woodward, Pip Killick, Caron Lim, Fiona MacDonald, Eamonn R. Maher
Được phát hành 2006Artigo -
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Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities Bằng Gina M. Grimshaw, Ala Szczepura, M.A. Hultén, Fiona MacDonald, N C Nevin, F. Sutton, S Dhanjal
Được phát hành 2003Artigo -
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Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage Bằng Michael Parks, Samantha Court, Siobhán Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
Được phát hành 2016Artigo -
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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage Bằng Michael Parks, Samantha Court, Benjamin Bowns, Siobhán Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
Được phát hành 2017Artigo -
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Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology Bằng Louise Tee, Derek Lim, Renuka Dias, Marie-Odile Baudement, A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona MacDonald, Eamonn R. Maher
Được phát hành 2013Artigo -
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Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperpl... Bằng 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
Được phát hành 2013Artigo -
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Epigenotype-phenotype correlations in Silver-Russell syndrome Bằng 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
Được phát hành 2010Artigo -
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A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma Bằng 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
Được phát hành 2013Artigo -
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome Bằng 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
Được phát hành 2016Artigo -
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Tumor risks and genotypeâphenotypeâproteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i> Bằng 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
Được phát hành 2009Artigo -
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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... Bằng 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
Được phát hành 2012Artigo -
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Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome Bằng 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
Được phát hành 2007Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Medicine
Gene
Genetics
Internal medicine
Phenotype
Gene expression
Genotype
Mutation
Pathology
Endocrinology
Genetic testing
Beckwith–Wiedemann syndrome
Bioinformatics
DNA methylation
Germline mutation
Missense mutation
Pediatrics
Pheochromocytoma
Pregnancy
Psychology
Allele
Disease
Fetus
Genomic imprinting
Oncology
Paraganglioma
Penetrance
Prenatal diagnosis
Psychiatry