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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2003 1
2006 1
2007 3
2008 2
2009 2
2010 4
2011 5
2012 4
2013 6
2014 11
2015 9
2016 12
2017 11
2018 14
2019 29
2020 21
2021 14
2022 9
2023 6
2024 5

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139 results

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Page 1
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: van hasselt pm. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
Prime editing for functional repair in patient-derived disease models.
Schene IF, Joore IP, Oka R, Mokry M, van Vugt AHM, van Boxtel R, van der Doef HPJ, van der Laan LJW, Verstegen MMA, van Hasselt PM, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: van hasselt pm. Nat Commun. 2020 Oct 23;11(1):5352. doi: 10.1038/s41467-020-19136-7. Nat Commun. 2020. PMID: 33097693 Free PMC article.
Inborn errors of enzymes in glutamate metabolism.
Rumping L, Vringer E, Houwen RHJ, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Rumping L, et al. Among authors: van hasselt pm. J Inherit Metab Dis. 2020 Mar;43(2):200-215. doi: 10.1002/jimd.12180. Epub 2019 Oct 11. J Inherit Metab Dis. 2020. PMID: 31603991 Free PMC article. Review.
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination.
Ayuso-García P, Sánchez-Rueda A, Velasco-Avilés S, Tamayo-Caro M, Ferrer-Pinós A, Huarte-Sebastian C, Alvarez V, Riobello C, Jiménez-Vega S, Buendia I, Cañas-Martin J, Fernández-Susavila H, Aparicio-Rey A, Esquinas-Román EM, Ponte CR, Guhl R, Laville N, Pérez-Andrés E, Lavín JL, González-Lopez M, Cámara NM, Aransay AM, Lozano JJ, Sutherland JD, Barrio R, Martinez-Chantar ML, Azkargorta M, Elortza F, Soriano-Navarro M, Matute C, Sánchez-Gómez MV, Bayón-Cordero L, Pérez-Samartín A, Bravo SB, Kurz T, Lama-Díaz T, Blanco MG, Haddad S, Record CJ, van Hasselt PM, Reilly MM, Varela-Rey M, Woodhoo A. Ayuso-García P, et al. Among authors: van hasselt pm. Sci Adv. 2024 Apr 12;10(15):eadm7600. doi: 10.1126/sciadv.adm7600. Epub 2024 Apr 12. Sci Adv. 2024. PMID: 38608019 Free PMC article.
[Hereditary fructose intolerance].
Rumping L, Waterham HR, Kok I, van Hasselt PM, Visser G. Rumping L, et al. Among authors: van hasselt pm. Ned Tijdschr Geneeskd. 2014;158:A6889. Ned Tijdschr Geneeskd. 2014. PMID: 24594126 Dutch.
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI. Al-Saady M, et al. Among authors: van hasselt pm. Ann Clin Transl Neurol. 2023 Jul;10(7):1146-1159. doi: 10.1002/acn3.51796. Epub 2023 May 22. Ann Clin Transl Neurol. 2023. PMID: 37212343 Free PMC article.
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
Eskandari SK, Revenich EGM, Pot DJ, de Boer F, Bierings M, van Spronsen FJ, van Hasselt PM, Lindemans CA, Lubout CMA. Eskandari SK, et al. Among authors: van hasselt pm. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Schwantje M, et al. Among authors: van hasselt pm. J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13. J Inherit Metab Dis. 2020. PMID: 31605543 Free PMC article. Review.
139 results