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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2010 1
2011 1
2012 2
2013 1
2015 1
2016 2
2018 2
2019 5
2020 5
2021 2
2023 1
2024 0

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19 results

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Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Among authors: meuwissen me. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK, Neven J, Bael A, Meuwissen MEC, van den Akker M. Kingma SDK, et al. Among authors: meuwissen mec. Orphanet J Rare Dis. 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x. Orphanet J Rare Dis. 2023. PMID: 37710296 Free PMC article. Review.
Loss of USP18 in microglia induces white matter pathology.
Schwabenland M, Mossad O, Peres AG, Kessler F, Maron FJM, Harsan LA, Bienert T, von Elverfeldt D, Knobeloch KP, Staszewski O, Heppner FL, Meuwissen MEC, Mancini GMS, Prinz M, Blank T. Schwabenland M, et al. Among authors: meuwissen mec. Acta Neuropathol Commun. 2019 Jul 4;7(1):106. doi: 10.1186/s40478-019-0757-8. Acta Neuropathol Commun. 2019. PMID: 31272490 Free PMC article. No abstract available.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: meuwissen mec. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
Koene S, Peeters-Scholte CMPCD, Knijnenburg J, de Vries LS, van Scheltema PNA, Meuwissen ME, Steggerda SJ, Santen GWE. Koene S, et al. Among authors: meuwissen me. Am J Med Genet A. 2021 Feb;185(2):571-574. doi: 10.1002/ajmg.a.61988. Epub 2020 Nov 28. Am J Med Genet A. 2021. PMID: 33247988 Free PMC article.
19 results