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

Year Number of Results
2001 1
2003 1
2006 3
2007 5
2008 2
2010 3
2011 1
2012 1
2015 4
2016 2
2017 3
2018 4
2019 1
2020 2
2021 5
2022 2
2023 3
2024 2
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40 results

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Page 1
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Among authors: haaxma ca. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: haaxma ca. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: haaxma ca. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP. van Os NJH, et al. Among authors: haaxma ca. Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24. Clin Immunol. 2017. PMID: 28126470 Free article.
Strong association with remote EBV infection in children with MS as opposed to other acquired demyelinating disorders.
Molenaar S, Scherbeijn S, Bruijstens A, Buijze MSJ, Smolders J, Geurts van Kessel C, Neuteboom RF; Dutch study group for paediatric multiple sclerosis and acute disseminated encephalomyelitis. Molenaar S, et al. J Neurol Neurosurg Psychiatry. 2025 Sep 12;96(10):975-980. doi: 10.1136/jnnp-2024-335689. J Neurol Neurosurg Psychiatry. 2025. PMID: 40102037
Babinski, pseudo-Babinski, and dystonia.
Horstink MW, Haaxma C, Bloem BR, Duysens J. Horstink MW, et al. Among authors: haaxma c. Arch Neurol. 2007 Aug;64(8):1207-9; author reply 1209. doi: 10.1001/archneur.64.8.1207. Arch Neurol. 2007. PMID: 17698716 Review. No abstract available.
Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis.
de Bruijn MAAM, Aarsen FK, van Oosterhout MP, van der Knoop MM, Catsman-Berrevoets CE, Schreurs MWJ, Bastiaansen DEM, Sillevis Smitt PAE, Neuteboom RF, Titulaer MJ; CHANCE Study Group. de Bruijn MAAM, et al. Neurology. 2018 May 29;90(22):e1997-e2005. doi: 10.1212/WNL.0000000000005605. Epub 2018 Apr 27. Neurology. 2018. PMID: 29703768 Free PMC article.
40 results