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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium; van Balkom IDC. van Eeghen AM, et al. Among authors: van balkom idc. Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30. Eur J Med Genet. 2023. PMID: 37003574 Free article.
Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. den Hollander B, et al. Among authors: van eeghen am. Contemp Clin Trials Commun. 2023 Nov 17;36:101233. doi: 10.1016/j.conctc.2023.101233. eCollection 2023 Dec. Contemp Clin Trials Commun. 2023. PMID: 38144875 Free PMC article.
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].
Hollander BD, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. Hollander BD, et al. Among authors: van eeghen am. Contemp Clin Trials Commun. 2024 Feb 1;38:101264. doi: 10.1016/j.conctc.2024.101264. eCollection 2024 Apr. Contemp Clin Trials Commun. 2024. PMID: 38533474 Free PMC article.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Müller AR, van Silfhout NY, den Hollander B, Kampman DHC, Bakkum L, Brands MMMG, Haverman L, Terwee CB, Schuengel C, Daams J, Hessl D, Wijburg FA, Boot E, van Eeghen AM. Müller AR, et al. Among authors: van eeghen am. Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245721. doi: 10.1177/26330040241245721. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38681798 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: van eeghen am. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
45 results