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Year Number of Results
2003 1
2006 1
2010 1
2012 1
2013 2
2014 1
2017 1
2018 1
2019 1
2020 1
2021 1
2022 1
2023 1
2024 1

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12 results

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Page 1
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: koudijs sm. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP, Adjobo-Hermans MJW, de Potter B, Hoogstraten S, Wezendonk LHT, Tutakhel OAZ, Wintjes LT, van den Heuvel B, Willems PHGM, Kamsteeg EJ, Gozalbo MER, Sallevelt SCEH, Koudijs SM, Nicolai J, de Bie CI, Hoogendijk JE, Koopman WJH, Rodenburg RJ. Bulthuis EP, et al. Among authors: koudijs sm. Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166808. doi: 10.1016/j.bbadis.2023.166808. Epub 2023 Jul 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37454773 Free article.
Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.
Catsman-Berrevoets CE, Koudijs SM, Buijze MSJ, de Laat PCJ, Pasmans SGMA, Dremmen MHG. Catsman-Berrevoets CE, et al. Among authors: koudijs sm. Eur J Paediatr Neurol. 2022 May;38:66-72. doi: 10.1016/j.ejpn.2022.04.002. Epub 2022 Apr 13. Eur J Paediatr Neurol. 2022. PMID: 35461064 Free article.
Etiology-specific differences in motor function after hemispherectomy.
van der Kolk NM, Boshuisen K, van Empelen R, Koudijs SM, Staudt M, van Rijen PC, van Nieuwenhuizen O, Braun KP. van der Kolk NM, et al. Among authors: koudijs sm. Epilepsy Res. 2013 Feb;103(2-3):221-30. doi: 10.1016/j.eplepsyres.2012.08.007. Epub 2012 Sep 11. Epilepsy Res. 2013. PMID: 22974527
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Lenaerts L, et al. Among authors: koudijs sm. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. Genet Med. 2021. PMID: 33106617 Free PMC article.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Among authors: koudijs sm. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
Salivary cortisol in children with cognitive impairment.
Terstegen C, Koot HM, Koudijs SM, de Boer JB, Weijers EM, de Jong FH, Tibboel D. Terstegen C, et al. Among authors: koudijs sm. Dev Med Child Neurol. 2003 Feb;45(2):139-40. Dev Med Child Neurol. 2003. PMID: 12578242 Free article. No abstract available.
12 results