Matthijs G - Search Results

1

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: matthijs g. Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579669

2

PREPL: a putative novel oligopeptidase propelled into the limelight.

Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: matthijs g. Biol Chem. 2006 Jul;387(7):879-83. doi: 10.1515/BC.2006.111. Biol Chem. 2006. PMID: 16913837 Review.

3

Multi-system disorder syndromes associated with cystinuria type I.

Martens K, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: matthijs g. Curr Mol Med. 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. Curr Mol Med. 2008. PMID: 18781961 Review.

4

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Am J Hum Genet. 2006 Jan;78(1):38-51. doi: 10.1086/498852. Epub 2005 Nov 23. Am J Hum Genet. 2006. PMID: 16385448 Free PMC article.

5

Congenital disorders of glycosylation: other causes of ichthyosis.

Jaeken J, Rymen D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2014 Apr;22(4):444. doi: 10.1038/ejhg.2013.168. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900269 Free PMC article. No abstract available.

6

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.298. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424124 Free PMC article. No abstract available.

7

Clinical utility gene card for: Phosphomannose isomerase deficiency.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.29. Epub 2014 Feb 26. Eur J Hum Genet. 2014. PMID: 24569608 Free PMC article. No abstract available.

8

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.146. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052310 Free PMC article. No abstract available.

9

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2015.9. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649379 Free PMC article. No abstract available.

10

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2015 Dec;23(12):1749-. doi: 10.1038/ejhg.2015.177. Epub 2015 Aug 5. Eur J Hum Genet. 2015. PMID: 26242989 Free PMC article. No abstract available.

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