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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.
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY. Overwater IE, et al. Among authors: van der ende el, van den ouweland am, van eeghen am. Eur J Hum Genet. 2016 Dec;24(12):1688-1695. doi: 10.1038/ejhg.2016.85. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406250 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.
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
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