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Page 1
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: swillen a. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
Social phenotypes in genetic syndromes.
Swillen A, de Ravel T, Oliver C. Swillen A, et al. J Intellect Disabil Res. 2012 Oct;56(10):919-21. doi: 10.1111/j.1365-2788.2012.01620.x. J Intellect Disabil Res. 2012. PMID: 22973833 No abstract available.
Velocardiofacial syndrome presenting as distal arthrogryposis.
Devriendt K, Swillen A, Gewillig M, Fryns JP, Moens P, De Smet L. Devriendt K, et al. Among authors: swillen a. Eur J Pediatr. 2004 Jun;163(6):329-30. doi: 10.1007/s00431-004-1429-6. Eur J Pediatr. 2004. PMID: 15346917 No abstract available.
Middle and inner ear malformations in velocardiofacial syndrome.
Devriendt K, Swillen A, Schatteman I, Lemmerling M, Dhooge I. Devriendt K, et al. Among authors: swillen a. Am J Med Genet A. 2004 Dec 1;131(2):225-6. doi: 10.1002/ajmg.a.30326. Am J Med Genet A. 2004. PMID: 15389775 No abstract available.
[Monogenetic causes of psychiatric disorders: a review].
van Amelsvoort TAMJ, Swillen A. van Amelsvoort TAMJ, et al. Among authors: swillen a. Tijdschr Psychiatr. 2022;64(5):291-294. Tijdschr Psychiatr. 2022. PMID: 35735039 Free article. Review. Dutch.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. Among authors: swillen a. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
133 results