Resultados de búsqueda - Sahar Mansour
- Mostrando 1 - 20 Resultados de 65
- Ir a la Siguiente Página
-
1
The phenotype of survivors of campomelic dysplasia por Sahar Mansour
Publicado 2002Carta -
2
-
3
-
4
Quality of life among menopausal women por Hoda Mohamed, Sahar Mansour Lamadah, Luma Gh. Al Zamil
Publicado 2014Artigo -
5
-
6
-
7
-
8
-
9
-
10
-
11
-
12
-
13
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis por Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour
Publicado 2020Revisão -
14
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management por Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
Publicado 2018Artigo -
15
<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 por Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
Publicado 2012Revisão -
16
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders por Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles
Publicado 2013Artigo -
17
Detection of structural mosaicism from targeted and whole-genome sequencing data por 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
Publicado 2017Artigo -
18
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype por 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
Publicado 2011Artigo -
19
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 por 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
Publicado 2002Artigo -
20
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 por 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
Publicado 2013Artigo
Herramientas de búsqueda:
Materias Relacionadas
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