Sahar Mansour
- Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
2002/07/01 by Glen Brice, G Brice, S Mansour +18 · 27 citations
Medicine · #Lymphatic System and Diseases #Vascular Malformations and Hemangiomas #Lymphatic Disorders and Treatments
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 28 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
2011/01/25 by Pia Ostergaard, Pia Østergaard, Michael A Simpson +15 · 26 citations
Medicine · #Lymphatic System and Diseases #Lymphatic Disorders and Treatments #Vascular Malformations and Hemangiomas
- Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
2020/05/14 by Kristiana Gordon, Ruth Varney, Vaughan Keeley +8 · 25 citations
Medicine · #Lymphatic System and Diseases #Vascular Malformations and Hemangiomas #Lymphatic Disorders and Treatments