Ohcanbohtosat - Sahar Mansour
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The phenotype of survivors of campomelic dysplasia Dahkki Sahar Mansour
Almmustuhtton 2002Carta -
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Quality of life among menopausal women Dahkki Hoda Mohamed, Sahar Mansour Lamadah, Luma Gh. Al Zamil
Almmustuhtton 2014Artigo -
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Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia Dahkki Sharon G. McDowall, Anthony Argentaro, Shoba Ranganathan, Polly Weller, Sabine Mertin, Sahar Mansour, John Tolmie, Vincent R. Harley
Almmustuhtton 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 Dahkki Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour
Almmustuhtton 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 Dahkki Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
Almmustuhtton 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 Dahkki Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
Almmustuhtton 2012Revisão -
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Dahkki Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles
Almmustuhtton 2013Artigo -
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Detection of structural mosaicism from targeted and whole-genome sequencing data Dahkki 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
Almmustuhtton 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 Dahkki 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
Almmustuhtton 2011Artigo -
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 Dahkki 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
Almmustuhtton 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 Dahkki 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
Almmustuhtton 2013Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Genetics
Gene
Medicine
Phenotype
Mutation
Pathology
Internal medicine
Cancer
Pediatrics
Breast cancer
Exome sequencing
Lymphedema
Bioinformatics
Exome
Psychiatry
Computational biology
Disease
Lymphatic system
Pregnancy
Surgery
Anatomy
Dysplasia
Genotype
Immunology
Microcephaly
Missense mutation
Proband
Short stature
Allele