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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. Among authors: van dijk fs. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free article.
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.
Angwin C, Zschocke J, Kammin T, Björck E, Bowen J, Brady AF, Burns H, Cummings C, Gardner R, Ghali N, Gröbner R, Harris J, Higgins M, Johnson D, Lepperdinger U, Milnes D, Pope FM, Sehra R, Kapferer-Seebacher I, Sobey G, Van Dijk FS. Angwin C, et al. Among authors: van dijk fs. Front Genet. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339. eCollection 2023. Front Genet. 2023. PMID: 37323685 Free PMC article.
An exemplary model of genetic counselling for highly specialised services.
Harris J, Bartlett M, Baker D, Berlin C, Bowen J, Cummings C, Fallows C, Green C, Griffin J, Julier K, Kammin T, Sehra R, Stacey C, Cobben J, Ghali N, Johnson D, Sobey G, van Dijk FS. Harris J, et al. Among authors: van dijk fs. J Community Genet. 2023 Apr;14(2):115-119. doi: 10.1007/s12687-023-00640-4. Epub 2023 Mar 9. J Community Genet. 2023. PMID: 36892793 Free PMC article. Review.
TNXB-Related Classical-Like Ehlers-Danlos Syndrome.
van Dijk FS, Ghali N, Demirdas S, Baker D. van Dijk FS, et al. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36108117 Free Books & Documents. Review.
57 results