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European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Genome Research|September 1, 2017
Detection of structural mosaicism from targeted and whole-genome sequencing dataDaniel A King, Alejandro Sifrim, Tomas W Fitzgerald, et al.
Circulation Research|February 16, 2013
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedemaKristiana Gordon, Dörte Schulte, Glen Brice, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, et al.
Journal of the Egyptian National Cancer Institute|June 24, 2010
Women Health Outreach Program; a New Experience for all Egyptian WomenDorria Saleh Salem, Rasha Mohamed Kamal, Maha Hussein Helal, et al.
Journal of Medical Genetics|April 18, 2025
Phenotypic heterogeneity in <i>DYNC2H1</i>-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomesNikhil Pattani, Nour Elkhateeb, Aakash Joshi, et al.
JCI Insight|September 12, 2023
Erythematous capillary-lymphatic malformations mimicking blood vascular anomaliesRené Hägerling, Malou Van Zanten, Rose Yinghan Behncke, et al.
British Journal of Haematology|January 22, 2024
Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology GuidelineAustin Kulasekararaj, Jamie Cavenagh, Inderjeet Dokal, et al.
JCI Insight|August 18, 2017
VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformationsRené Hägerling, Dominik Drees, Aaron Scherzinger, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
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