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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B. Vermeer S, et al. Among authors: meijer rp. Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Neurogenetics. 2008. PMID: 18465152 Free PMC article.
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Marcelis CL, et al. Among authors: meijer rp. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. Hum Mutat. 2008. PMID: 18470948
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H. Vermeer S, et al. Among authors: meijer rp. J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24. J Mol Diagn. 2009. PMID: 19779133 Free PMC article.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: meijer rp. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Corrigendum to "European Association of Urology Guidelines on Muscle-invasive and Metastatic Bladder Cancer: Summary of the 2023 Guidelines" [Eur. Urol. 85 (2024) 17-31].
Alfred Witjes J, Bruins HM, Carrión A, Cathomas R, Compérat E, Efstathiou JA, Fietkau R, Gakis G, Lorch A, Martini A, Mertens LS, Meijer RP, Milowsky MI, Neuzillet Y, Panebiaco V, Redlef J, Rink M, Rouanne M, Thalmann GN, Sæbjørnsen S, Veskimäe E, Mariappan P, van der Heijden AG. Alfred Witjes J, et al. Among authors: meijer rp. Eur Urol. 2024 Mar 15:S0302-2838(24)02194-8. doi: 10.1016/j.eururo.2024.03.002. Online ahead of print. Eur Urol. 2024. PMID: 38492977 No abstract available.
Short-term Changes in Health-related Quality of Life of Patients Undergoing Radical Surgery for Upper Urinary Tract Urothelial Carcinoma: Results from a Prospective Phase 2 Clinical Trial.
van Doeveren T, Remmers S, Atema V, van den Bergh RCN, Boevé ER, Cornel EB, van der Heijden AG, Hendricksen K, Cauberg ECC, Jacobs RAL, Kroon BK, Leliveld AM, Meijer RP, Merks B, Oddens JR, Roelofs L, Somford DM, de Vries P, Wijsman B, Windt WAKM, Zwaan PJ, van Leeuwen PJ, Boormans JL, Aben KKH. van Doeveren T, et al. Among authors: meijer rp. Eur Urol Open Sci. 2024 Jan 5;60:15-23. doi: 10.1016/j.euros.2023.12.005. eCollection 2024 Feb. Eur Urol Open Sci. 2024. PMID: 38375344 Free PMC article.
119 results