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Page 1
Costello syndrome: report and review.
van Eeghen AM, van Gelderen I, Hennekam RC. van Eeghen AM, et al. Among authors: van gelderen i. Am J Med Genet. 1999 Jan 15;82(2):187-93. doi: 10.1002/(sici)1096-8628(19990115)82:2<187::aid-ajmg17>3.0.co;2-2. Am J Med Genet. 1999. PMID: 9934987 Review.
An aetiological study of 25 mentally retarded adults with autism.
van Karnebeek CD, van Gelderen I, Nijhof GJ, Abeling NG, Vreken P, Redeker EJ, van Eeghen AM, Hoovers JM, Hennekam RC. van Karnebeek CD, et al. Among authors: van gelderen i, van eeghen am. J Med Genet. 2002 Mar;39(3):205-13. doi: 10.1136/jmg.39.3.205. J Med Genet. 2002. PMID: 11897827 Free PMC article. No abstract available.
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
Thyroid function in males with fragile X syndrome.
Huisman SA, Wiedijk BM, van Eeghen AM, Hennekam RC, van Trotsenburg ASP. Huisman SA, et al. Among authors: van trotsenburg asp, van eeghen am. J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):903-905. doi: 10.1515/jpem-2019-0224. J Pediatr Endocrinol Metab. 2019. PMID: 31280236 No abstract available.
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P, Bok LA, van Eeghen AM, Houben ML, van Amelsvoort TAMJ, Boot E, van Egmond-Ebbeling MB. von Scheibler ENMM, et al. Among authors: van amelsvoort tamj, van der valk bouman es, van egmond ebbeling mb, van eeghen am. Am J Med Genet A. 2022 Feb;188(2):569-578. doi: 10.1002/ajmg.a.62556. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773366 Free PMC article.
Worries and needs of adults and parents of adults with neurofibromatosis type 1.
Rietman AB, van Helden H, Both PH, Taal W, Legerstee JS, van Staa A, Moll HA, Oostenbrink R, van Eeghen AM. Rietman AB, et al. Among authors: van helden h, van staa a, van eeghen am. Am J Med Genet A. 2018 May;176(5):1150-1160. doi: 10.1002/ajmg.a.38680. Am J Med Genet A. 2018. PMID: 29681082 Free PMC article.
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.
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
Müller AR, Boot E, Notermans SB, Schuengel C, Henneman L, Cornel MC, van Haelst MM, Alders M, van Karnebeek CDM, Bijl B, Wijburg FA, van Eeghen AM. Müller AR, et al. Among authors: van eeghen am. Orphanet J Rare Dis. 2024 Sep 16;19(1):346. doi: 10.1186/s13023-024-03323-6. Orphanet J Rare Dis. 2024. PMID: 39285396 Free PMC article.
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswood JC, Schoeters E, Srivastava S, Takei M, Gardner-Lubbe S, Kumm AJ, Krueger DA, Sahin M, De Waele L, Jansen AC. de Vries PJ, et al. Among authors: van eeghen am. J Neurodev Disord. 2023 Sep 14;15(1):32. doi: 10.1186/s11689-023-09500-1. J Neurodev Disord. 2023. PMID: 37710171 Free PMC article.
56 results