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Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland|October 28, 2025
Listening to patients: A qualitative study on diagnostic delay, coping strategies and stigma in early-onset colorectal cancerH L Gros, S Taha-Mehlitz, S Erdem, et al.
American Journal of Human Genetics|April 3, 2018
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos SyndromePatrick R Blackburn, Zhi Xu, Kathleen E Tumelty, et al.
Plos Genetics|September 20, 2008
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisNicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
Plos Neglected Tropical Diseases|July 28, 2021
Predicting the environmental suitability for onchocerciasis in Africa as an aid to elimination planningElizabeth A Cromwell, Joshua C P Osborne, Thomas R Unnasch, et al.
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