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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
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.
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.
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.
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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.
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.
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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
van der Sanden BPGH, Corominas J, de Groot M, Pennings M, Meijer RPP, Verbeek N, van de Warrenburg B, Schouten M, Yntema HG, Vissers LELM, Kamsteeg EJ, Gilissen C.
van der Sanden BPGH, et al. Among authors: meijer rpp.
Genet Med. 2021 Aug;23(8):1569-1573. doi: 10.1038/s41436-021-01174-1. Epub 2021 Apr 12.
Genet Med. 2021.
PMID: 33846582
Free article.
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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M, Meijer RPP, Gerrits M, Janssen J, Pfundt R, de Leeuw N, Gilissen C, Gardeitchik T, Schouten M, Voermans N, van de Warrenburg B, Kamsteeg EJ.
Pennings M, et al. Among authors: meijer rpp.
Eur J Hum Genet. 2023 Jun;31(6):654-662. doi: 10.1038/s41431-023-01312-0. Epub 2023 Feb 13.
Eur J Hum Genet. 2023.
PMID: 36781956
Free PMC article.
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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.
Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.
Hum Mutat. 2008.
PMID: 18470948
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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.
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.
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