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European Journal of Human Genetics : EJHG|January 17, 2008
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2Tayebeh Rezaie, Rose Ghoroghchian, Rachel Bell, et al.
Genome Research|December 21, 2013
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersDaniel A King, Tomas W Fitzgerald, Ray Miller, et al.
Human Mutation|October 18, 2012
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database updateKristiana Gordon, Sarah L Spiden, Fiona C Connell, et al.
Human Genetics|May 21, 2005
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutationsCarolyn Sholto-Douglas-Vernon, Rachel Bell, Glen Brice, et al.
International Journal of Molecular Sciences|August 4, 2018
A Novel Splice-Site Mutation in <i>VEGFC</i> Is Associated with Congenital Primary Lymphoedema of GordonNoeline Nadarajah, Dörte Schulte, Vivienne McConnell, et al.
Pediatric Cardiology|September 24, 2025
Outcome of Tetralogy of Fallot Through Initial Palliation and Surgical RepairMiriam Giacobbe, Trisha V Vigneswaran, Shuwayne DeSouza, et al.
Clinical Genetics|June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variantsEleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Scientific Reports|November 30, 2022
Psychometric evaluation of the Depression Anxiety Stress Scale 8 among women with chronic non-cancer pelvic painAmira Mohammed Ali, Amin Omar Hendawy, Rasmieh Al-Amer, et al.
Journal of Medical Genetics|January 27, 2011
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypePia Ostergaard, Michael A Simpson, Glen Brice, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar Mansour, Marielle Swinkels, Paulien A Terhal, et al.
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