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Page 1
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM. van Minkelen R, et al. Among authors: van der helm r. BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. BMC Med Genet. 2015. PMID: 26285866 Free PMC article.
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Ruijter GJ, et al. Among authors: van der helm rm, van diggelen op, van de kamp jm. Mol Genet Metab. 2008 Feb;93(2):104-11. doi: 10.1016/j.ymgme.2007.09.011. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024218
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
Ten Kate CA, Brouwer RWW, van Bever Y, Martens VK, Brands T, van Beelen NWG, Brooks AS, Huigh D, van der Helm RM, Eussen BHFMM, van IJcken WFJ, IJsselstijn H, Tibboel D, Wijnen RMH, de Klein A, Hofstra RMW, Brosens E. Ten Kate CA, et al. Among authors: van der helm rm. Birth Defects Res. 2020 May 15;112(9):670-687. doi: 10.1002/bdr2.1683. Epub 2020 Apr 16. Birth Defects Res. 2020. PMID: 32298054
Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA.
Kluzek K, Srebniak MI, Majer W, Ida A, Milecki T, Huminska K, van der Helm RM, Silesian A, Wrzesinski TM, Wojciechowicz J, Beverloo BH, Kwias Z, Bluyssen HAR, Wesoly J. Kluzek K, et al. Among authors: van der helm rm. Oncotarget. 2017 Apr 25;8(17):28558-28574. doi: 10.18632/oncotarget.15331. Oncotarget. 2017. PMID: 28212566 Free PMC article.
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: van der helm rm. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.
Seven cases of Pompe disease from Greece.
Kroos M, Manta P, Mavridou I, Muntoni F, Halley D, Van der Helm R, Zaifeiriou D, Van der Ploeg A, Reuser A, Michelakakis H. Kroos M, et al. Among authors: van der ploeg a, van der helm r. J Inherit Metab Dis. 2006 Aug;29(4):556-63. doi: 10.1007/s10545-006-0280-5. J Inherit Metab Dis. 2006. PMID: 16838077
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Bertoli-Avella AM, et al. Among authors: van der helm rm. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. J Am Coll Cardiol. 2015. PMID: 25835445 Free PMC article.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: van der helm r. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
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