Kết quả tìm kiếm - Sahar Mansour
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The phenotype of survivors of campomelic dysplasia Bằng Sahar Mansour
Được phát hành 2002Carta -
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Human phenotypes caused by <i>PIEZO1</i> mutations; one gene, two overlapping phenotypes? Bằng Silvia Martin‐Almedina, Sahar Mansour, Pia Østergaard
Được phát hành 2018Revisão -
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Quality of life among menopausal women Bằng Hoda Mohamed, Sahar Mansour Lamadah, Luma Gh. Al Zamil
Được phát hành 2014Artigo -
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The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome Bằng Sarah Joyce, Kristiana Gordon, Glen Brice, Pia Østergaard, Rani Nagaraja, John Short, Sandra Moore, Peter Mortimer, Sahar Mansour
Được phát hành 2015Artigo -
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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 Bằng Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour
Được phát hành 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 Bằng Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
Được phát hành 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 Bằng Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
Được phát hành 2012Revisão -
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Bằng Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles
Được phát hành 2013Artigo -
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Detection of structural mosaicism from targeted and whole-genome sequencing data Bằng 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
Được phát hành 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 Bằng 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
Được phát hành 2011Artigo -
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 Bằng 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
Được phát hành 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 Bằng 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
Được phát hành 2013Artigo
Công cụ tìm kiếm:
Các môn học liên quan
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