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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19. Genet Med. 2023. PMID: 37728613 No abstract available.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis.
Helfferich J, Neuteboom RF, de Lange MMA, Benschop KSM, Van Leer-Buter CC, Meijer A, Bakker DP, de Bie E, Braakman HMH, Brandsma R, Niks EH, Niermeijer JM, Roelfsema V, Schoenmaker N, Sie LT, Niesters HG, Te Wierik MJM, Jacobs BC, Brouwer OF. Helfferich J, et al. Among authors: niermeijer jm. Eur J Paediatr Neurol. 2023 May;44:28-36. doi: 10.1016/j.ejpn.2023.03.002. Epub 2023 Mar 22. Eur J Paediatr Neurol. 2023. PMID: 36996587 Free article.
Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome.
Roodbol J, Korinthenberg R, Venema E, de Wit MY, Lingsma HF, Catsman-Berrevoets CE, Jacobs BC; Working Group GBS in Children in Germany; Austria and Switzerland and the Dutch Pediatric GBS Study Group. Roodbol J, et al. Eur J Paediatr Neurol. 2023 May;44:18-24. doi: 10.1016/j.ejpn.2023.02.007. Epub 2023 Mar 10. Eur J Paediatr Neurol. 2023. PMID: 36931152 Free article.
Epidemiology of acute flaccid myelitis in children in the Netherlands, 2014 to 2019.
Helfferich J, de Lange MM, Benschop KS, Jacobs BC, Van Leer-Buter CC, Meijer A, Bakker DP, de Bie E, Braakman HM, Brandsma R, Neuteboom RF, Niks EH, Niermeijer JM, Roelfsema V, Schoenmaker N, Sie LT, Niesters HG, Brouwer OF, Te Wierik MJ. Helfferich J, et al. Among authors: niermeijer jm. Euro Surveill. 2022 Oct;27(42):2200157. doi: 10.2807/1560-7917.ES.2022.27.42.2200157. Euro Surveill. 2022. PMID: 36268734 Free PMC article. Review.
Prognostic factors for relapse and outcome in pediatric acute transverse myelitis.
Helfferich J, Bruijstens AL, Wong YYM, Danielle van Pelt E, Boon M, Neuteboom RF; Dutch Study Group for Pediatric Multiple Sclerosis and Acute Disseminated Encephalomyelitis. Helfferich J, et al. Brain Dev. 2021 May;43(5):626-636. doi: 10.1016/j.braindev.2020.12.019. Epub 2021 Jan 26. Brain Dev. 2021. PMID: 33509615 Free article.
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.
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.
de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF. de Mol CL, et al. Among authors: niermeijer jmf. J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22. J Neurol. 2018. PMID: 29569176 Free PMC article.
23 results