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Page 1
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N. Lipstein N, et al. Among authors: van empelen r, van hasselt pm, van haelst mm, van teeseling hc, van haaften g. J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13. J Clin Invest. 2017. PMID: 28192369 Free PMC article.
Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
de Sain-van der Velden MG, van der Ham M, Verhoeven-Duif NM, Visser G, van Hasselt PM. de Sain-van der Velden MG, et al. Among authors: van hasselt pm, van der ham m. J Inherit Metab Dis. 2014 Jul;37(4):651-2. doi: 10.1007/s10545-014-9706-7. Epub 2014 Apr 3. J Inherit Metab Dis. 2014. PMID: 24696407 No abstract available.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Wiegerinck CL, et al. Among authors: van hasselt pm, van haaften g, van haaften visser dy. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. van Hasselt PM, et al. Among authors: van der zwaag b, van haaften g, van der smagt jj. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778. N Engl J Med. 2014. PMID: 25390740 Free article.
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.
de Sain-van der Velden MGM, van der Ham M, Jans JJ, Visser G, van Hasselt PM, Prinsen HCMT, Verhoeven-Duif NM. de Sain-van der Velden MGM, et al. Among authors: van hasselt pm, van der ham m. Anal Chim Acta. 2015 Jan 1;853:435-441. doi: 10.1016/j.aca.2014.10.043. Epub 2014 Oct 31. Anal Chim Acta. 2015. PMID: 25467488
Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, van Haaften G. van Hasselt PM, et al. Among authors: van haaften g. N Engl J Med. 2015 Feb 5;372(6):578-9. doi: 10.1056/NEJMc1415111. N Engl J Med. 2015. PMID: 25651259 No abstract available.
Vitamin B6 in plasma and cerebrospinal fluid of children.
Albersen M, Bosma M, Jans JJ, Hofstede FC, van Hasselt PM, de Sain-van der Velden MG, Visser G, Verhoeven-Duif NM. Albersen M, et al. Among authors: van hasselt pm. PLoS One. 2015 Mar 11;10(3):e0120972. doi: 10.1371/journal.pone.0120972. eCollection 2015. PLoS One. 2015. PMID: 25760040 Free PMC article.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G. Monroe GR, et al. Among authors: van hasselt pm, van haelst mm, van haaften g, van der smagt jj, van gassen kl. Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845106 Free article.
160 results