Résultats de la recherche - Sahar Mansour
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Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia par Sharon G. McDowall, Anthony Argentaro, Shoba Ranganathan, Polly Weller, Sabine Mertin, Sahar Mansour, John Tolmie, Vincent R. Harley
Publié 1999Artigo -
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Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis par Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour
Publié 2020Revisão -
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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management par Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
Publié 2018Artigo -
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<i>FLT</i><i>4</i>/<i>VEGFR</i><i>3</i>and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update par Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
Publié 2012Revisão -
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders par Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles
Publié 2013Artigo -
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Detection of structural mosaicism from targeted and whole-genome sequencing data par Daniel A. King, Alejandro Sifrim, Tomas Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju Mehta, Mohammed Shehla, Susan Tomkins, Pradeep Vasudevan, Matthew E. Hurles
Publié 2017Artigo -
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype par Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery
Publié 2011Artigo -
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 par Glen Brice, Sahar Mansour, R. Bryan Bell, J. R. O. Collin, Anne H. Child, A. F. Brady, M. Sarfarazi, K G Burnand, Steven Jeffery, Peter Mortimer, Victoria A. Murday
Publié 2002Artigo -
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Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema par Kristiana Gordon, Dörte Schulte, Glen Brice, Michael A. Simpson, M. Guy Roukens, Andreas van Impel, Fiona Connell, Kamini Kalidas, Steve Jeffery, Peter Mortimer, Sahar Mansour, Stefan Schulte‐Merker, Pia Østergaard
Publié 2013Artigo
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