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Page 1
Osteogenesis Imperfecta: A Review with Clinical Examples.
van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: van rijn rr. Mol Syndromol. 2011 Dec;2(1):1-20. doi: 10.1159/000332228. Epub 2011 Oct 12. Mol Syndromol. 2011. PMID: 22570641 Free PMC article.
Ectrodactyly with fibular aplasia: a separate entity?
Menke LA, Bijlsma EK, van Essen AJ, van den Boogaard MJ, van Rijn RR, Cobben JM. Menke LA, et al. Among authors: van essen aj, van den boogaard mj, van rijn rr. Eur J Med Genet. 2008 Sep-Oct;51(5):488-96. doi: 10.1016/j.ejmg.2008.04.001. Epub 2008 May 2. Eur J Med Genet. 2008. PMID: 18547886
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Among authors: van de kamp jm, van rijn rr. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: van rijn rr. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
Complete COL1A1 allele deletions in osteogenesis imperfecta.
van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G. van Dijk FS, et al. Among authors: van rijn rr. Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617. Genet Med. 2010. PMID: 21113976 Free article.
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.
Van Dijk FS, van Thuijl HF, Wermeskerken A, van Rijn RR, Cobben JM. Van Dijk FS, et al. Among authors: van thuijl hf, van rijn rr. Eur J Med Genet. 2011 May-Jun;54(3):284-6. doi: 10.1016/j.ejmg.2010.12.002. Epub 2010 Dec 15. Eur J Med Genet. 2011. PMID: 21167328
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: van rijn rr. Ned Tijdschr Geneeskd. 2012;156(21):A4585. Ned Tijdschr Geneeskd. 2012. PMID: 22617071 Review. Dutch.
Normal pediatric postmortem CT appearances.
Klein WM, Bosboom DG, Koopmanschap DH, Nievelstein RA, Nikkels PG, van Rijn RR. Klein WM, et al. Among authors: van rijn rr. Pediatr Radiol. 2015 Apr;45(4):517-26. doi: 10.1007/s00247-014-3258-8. Epub 2015 Apr 1. Pediatr Radiol. 2015. PMID: 25828355 Review.
272 results