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635 results

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Page 1
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Among authors: van karnebeek cd, van den heuvel l. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. Guillard M, et al. Among authors: van den heuvel l. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13. J Pediatr. 2011. PMID: 21920538 Free article.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: van schaftingen e, van karnebeek cd, van den heuvel l. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: van spronsen fj, van den heuvel l. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Wortmann SB, et al. Among authors: van den heuvel l. Eur J Med Genet. 2012 Oct;55(10):552-6. doi: 10.1016/j.ejmg.2012.06.002. Epub 2012 Jul 7. Eur J Med Genet. 2012. PMID: 22781753
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Lefeber DJ, et al. Among authors: van den heuvel l, van den elzen c. Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576565 Free PMC article.
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA. Pol A, et al. Among authors: van den heuvel l. Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18. Nat Genet. 2018. PMID: 29255262 Free PMC article.
635 results