Matthijs G - Search Results

1

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics. Matthijs G, et al. Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508566 Free PMC article.

2

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E, Martens K, Geuzens E, Matthijs G. Schollen E, et al. Among authors: matthijs g. Eur J Hum Genet. 2002 Oct;10(10):643-8. doi: 10.1038/sj.ejhg.5200858. Eur J Hum Genet. 2002. PMID: 12357336

3

Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.

Schollen E, Dequeker E, McQuaid S, Vankeirsbilck B, Michils G, Harvey J, van den Akker E, van Schooten R, Clark Z, Schrooten S, Matthijs G; DDQA Collaborative Group. Schollen E, et al. Among authors: matthijs g. Hum Mutat. 2005 Jun;25(6):583-92. doi: 10.1002/humu.20182. Hum Mutat. 2005. PMID: 15880509

4

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E. Hart CE, et al. Among authors: matthijs g. Am J Hum Genet. 2007 May;80(5):931-7. doi: 10.1086/517888. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436247 Free PMC article.

5

Introduction.

Matthijs G, Aymé S. Matthijs G, et al. Eur J Hum Genet. 2008 May;16 Suppl 1:S1-2. doi: 10.1038/ejhg.2008.35. Eur J Hum Genet. 2008. PMID: 18432280 No abstract available.

6

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

Van Esch H, Buekenhout L, Race V, Matthijs G. Van Esch H, et al. Among authors: matthijs g. Eur J Med Genet. 2009 Jan-Feb;52(1):37-40. doi: 10.1016/j.ejmg.2008.11.001. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041959

7

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Camajova J, Berwouts S, Matthijs G, Macek M Jr, Dequeker E. Camajova J, et al. Among authors: matthijs g. Eur J Hum Genet. 2009 Apr;17(4):537-40. doi: 10.1038/ejhg.2008.209. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050730 Free PMC article.

8

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G, Bakker E. van der Stoep N, et al. Among authors: matthijs g. Hum Mutat. 2009 Jun;30(6):899-909. doi: 10.1002/humu.21004. Hum Mutat. 2009. PMID: 19370767

9

A standardized framework for the validation and verification of clinical molecular genetic tests.

Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A; EuroGentest Validation Group. Mattocks CJ, et al. Among authors: matthijs g. Eur J Hum Genet. 2010 Dec;18(12):1276-88. doi: 10.1038/ejhg.2010.101. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664632 Free PMC article.

10

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.

Huys I, Van Overwalle G, Matthijs G. Huys I, et al. Among authors: matthijs g. Eur J Hum Genet. 2011 Oct;19(10):1104-7. doi: 10.1038/ejhg.2011.76. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654725 Free PMC article.

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