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Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4.
Stam M, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Habets LE, van Eijk RPA, Middelkoop BM, Goedee HS, de Groot JF, Roes KCB, Schoenmakers MAGC, Nieuwenhuis EES, Cuppen I, van den Berg LH, Wadman RI, van der Pol WL. Stam M, et al. Among authors: nieuwenhuis ees. Brain Commun. 2022 Dec 9;5(1):fcac324. doi: 10.1093/braincomms/fcac324. eCollection 2023. Brain Commun. 2022. PMID: 36632180 Free PMC article.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: nieuwenhuis ees. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
Validation of a modified bedside Pediatric Early Warning System score for detection of clinical deterioration in hospitalized pediatric oncology patients: A prospective cohort study.
Soeteman M, Kappen TH, van Engelen M, Marcelis M, Kilsdonk E, van den Heuvel-Eibrink MM, Nieuwenhuis EES, Tissing WJE, Fiocco M, van Asperen RMW. Soeteman M, et al. Among authors: nieuwenhuis ees. Pediatr Blood Cancer. 2023 Jan;70(1):e30036. doi: 10.1002/pbc.30036. Epub 2022 Oct 31. Pediatr Blood Cancer. 2023. PMID: 36316817
Mutation-specific reporter for optimization and enrichment of prime editing.
Schene IF, Joore IP, Baijens JHL, Stevelink R, Kok G, Shehata S, Ilcken EF, Nieuwenhuis ECM, Bolhuis DP, van Rees RCM, Spelier SA, van der Doef HPJ, Beekman JM, Houwen RHJ, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: nieuwenhuis ees. Nat Commun. 2022 Mar 1;13(1):1028. doi: 10.1038/s41467-022-28656-3. Nat Commun. 2022. PMID: 35232966 Free PMC article.
116 results