検索結果 - Sahar Mansour
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Quality of life among menopausal women 著者: Hoda Mohamed, Sahar Mansour Lamadah, Luma Gh. Al Zamil
出版事項 2014Artigo -
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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 著者: Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour
出版事項 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 著者: Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
出版事項 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 著者: Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
出版事項 2012Revisão -
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders 著者: Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles
出版事項 2013Artigo -
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Detection of structural mosaicism from targeted and whole-genome sequencing data 著者: 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
出版事項 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 著者: 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
出版事項 2011Artigo -
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 著者: 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
出版事項 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 著者: 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
出版事項 2013Artigo
関連主題
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