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Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP. Bergman JE, et al. Among authors: van essen aj, van ravenswaaij cm, van den wijngaard a, van tintelen jp. Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. doi: 10.1016/j.ejmg.2007.06.003. Epub 2007 Jul 15. Eur J Med Genet. 2007. PMID: 17720647
Question mark ears and post-auricular tags.
Gerkes EH, van Ravenswaaij CM, van Essen AJ. Gerkes EH, et al. Among authors: van essen aj, van ravenswaaij cm. Eur J Med Genet. 2008 May-Jun;51(3):264-7. doi: 10.1016/j.ejmg.2008.01.002. Epub 2008 Jan 30. Eur J Med Genet. 2008. PMID: 18314001
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Among authors: van essen aj, van ravenswaaij arts cm, van der vries g. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Among authors: van essen aj, van ravenswaaij arts cm. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, van Tienen FH, Te Meerman GJ, Jansweijer JA, van Essen AJ, Volders PG, Constantinescu AA, van den Akker PC, van Spaendonck-Zwarts KY, Oldenburg RA, Marcelis CL, van der Smagt JJ, Hennekam EA, Vink A, Bootsma M, Aten E, Wilde AA, van den Wijngaard A, Broers JL, Jongbloed JD, van der Velden J, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: van essen aj, van spaendonck zwarts ky, van den berg mp, van den akker pc, van der smagt jj, van der velden j, van den wijngaard a, van tintelen jp, van tienen fh. Circ Cardiovasc Genet. 2017 Aug;10(4):e001631. doi: 10.1161/CIRCGENETICS.116.001631. Circ Cardiovasc Genet. 2017. PMID: 28790152
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B. Rump P, et al. Among authors: van essen aj, van ravenswaaij arts cm, van dijk bos kk. BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8. BMC Med Genomics. 2016. PMID: 26846091 Free PMC article.
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014
107 results