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What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.
Rosenberg AGW, Pater MRA, Pellikaan K, Davidse K, Kattentidt-Mouravieva AA, Kersseboom R, Bos-Roubos AG, van Eeghen A, Veen JMC, van der Meulen JJ, van Aalst-van Wieringen N, Hoekstra FME, van der Lely AJ, de Graaff LCG. Rosenberg AGW, et al. Among authors: van der meulen jj, van eeghen a, van der lely aj, van aalst van wieringen n. J Clin Med. 2021 Nov 22;10(22):5457. doi: 10.3390/jcm10225457. J Clin Med. 2021. PMID: 34830739 Free PMC article.
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Müller AR, Luijten MAJ, Haverman L, de Ranitz-Greven WL, Janssens P, Rietman AB, Hoopen LWT, de Graaff LCG, de Wit MC, Jansen AC, Gipson T, Capal JK, de Vries PJ, van Eeghen AM. Müller AR, et al. Among authors: van eeghen am. BMC Med. 2023 Oct 23;21(1):401. doi: 10.1186/s12916-023-03092-2. BMC Med. 2023. PMID: 37872559 Free PMC article. No abstract available.
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM, Coesmans M, Van Den Berg E, De Wit MCY, Pijnenburg Y, Aronica E, Boot E, Van Eeghen AM. Kwetsie H, et al. Among authors: van eeghen am. Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/WNL.0000000000209413. Epub 2024 May 17. Neurology. 2024. PMID: 38759134 Free PMC 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.
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, Müller AR, van Amelsvoort TAMJ, Boot E. von Scheibler ENMM, et al. Among authors: van amelsvoort tamj, van eeghen am. Mov Disord Clin Pract. 2022 Oct 31;10(1):17-31. doi: 10.1002/mdc3.13577. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699000 Free PMC article. Review.
Personalized medicine for rare neurogenetic disorders: can we make it happen?
van Eeghen AM, Bruining H, Wolf NI, Bergen AA, Houtkooper RH, van Haelst MM, van Karnebeek CD. van Eeghen AM, et al. Among authors: van haelst mm, van karnebeek cd. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006200. doi: 10.1101/mcs.a006200. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35332073 Free PMC article.
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