Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 2 |
2017 | 1 |
2021 | 2 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
BMC Biol. 2023 Sep 4;21(1):184. doi: 10.1186/s12915-023-01652-9.
BMC Biol. 2023.
PMID: 37667308
Free PMC article.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ.
Abu Bakar N, et al. Among authors: heiner fokkema r.
J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28.
J Inherit Metab Dis. 2022.
PMID: 35279850
Free PMC article.
Item in Clipboard
Plasma Lead Concentration and Risk of Late Kidney Allograft Failure: Findings From the TransplantLines Biobank and Cohort Studies.
Sotomayor CG, Giubergia F, Groothof D, Ferreccio C, Nolte IM, Navis GJ, Gomes-Neto AW, Kremer D, Knobbe TJ, Eisenga MF, Rodrigo R, Touw DJ, Bakker SJL; TransplantLines Investigators.
Sotomayor CG, et al.
Am J Kidney Dis. 2022 Jul;80(1):87-97.e1. doi: 10.1053/j.ajkd.2021.10.009. Epub 2021 Dec 4.
Am J Kidney Dis. 2022.
PMID: 34871698
Free article.
Item in Clipboard
Airflow Limitation, Fatigue, and Health-Related Quality of Life in Kidney Transplant Recipients.
Knobbe TJ, Kremer D, Eisenga MF, van Londen M, Gomes-Neto AW, Douwes RM, Gan CT, Corpeleijn E, Annema C, Navis G, Berger SP, Bakker SJL; TransplantLines Investigators.
Knobbe TJ, et al.
Clin J Am Soc Nephrol. 2021 Nov;16(11):1686-1694. doi: 10.2215/CJN.06600521.
Clin J Am Soc Nephrol. 2021.
PMID: 34750161
Free PMC article.
Item in Clipboard
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.
van Spronsen FJ, et al. Among authors: heiner fokkema rm.
J Med Genet. 2017 Aug 9:jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. Online ahead of print.
J Med Genet. 2017.
PMID: 28794131
Item in Clipboard
Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.
Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, Heiner-Fokkema R, Sival DA, Lunsing RJ, Arjune S, Kosterink JG, van Spronsen FJ.
Hitzert MM, et al. Among authors: heiner fokkema r.
Pediatrics. 2012 Oct;130(4):e1005-10. doi: 10.1542/peds.2011-3330. Epub 2012 Sep 17.
Pediatrics. 2012.
PMID: 22987873
Item in Clipboard
Screening for metabolic vitamin B12 deficiency by holotranscobalamin in patients suspected of vitamin B12 deficiency: a multicentre study.
Heil SG, de Jonge R, de Rotte MC, van Wijnen M, Heiner-Fokkema RM, Kobold AC, Pekelharing JM, Adriaansen HJ, Sanders E, Trienekens PH, Rammeloo T, Lindemans J.
Heil SG, et al. Among authors: heiner fokkema rm.
Ann Clin Biochem. 2012 Mar;49(Pt 2):184-9. doi: 10.1258/acb.2011.011039. Epub 2012 Feb 2.
Ann Clin Biochem. 2012.
PMID: 22302152
Item in Clipboard
Cite
Cite