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PTEN mutation in a family with Cowden syndrome and autism.
Am J Med Genet. 2001 Aug 8;105(6):521-4. doi: 10.1002/ajmg.1477.
Am J Med Genet. 2001.
PMID: 11496368
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
Ligtenberg MJ, Hogervorst FB, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, Van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, Hoefsloot EH, Mariman EC, Brunner HG, Van 't Veer LJ.
Ligtenberg MJ, et al. Among authors: bosgoed ea.
Br J Cancer. 1999 Mar;79(9-10):1475-8. doi: 10.1038/sj.bjc.6690235.
Br J Cancer. 1999.
PMID: 10188893
Free PMC article.
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Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H.
Vermeer S, et al. Among authors: bosgoed ea.
J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24.
J Mol Diagn. 2009.
PMID: 19779133
Free PMC article.
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Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
Mattocks CJ, Watkins G, Ward D, Janssens T, Bosgoed EA, van der Donk K, Ligtenberg MJ, Pot B, Theelen J, Cross NC, Scheffer H, Matthijs G.
Mattocks CJ, et al. Among authors: bosgoed ea.
Clin Chem. 2010 Apr;56(4):593-602. doi: 10.1373/clinchem.2009.135426. Epub 2010 Feb 18.
Clin Chem. 2010.
PMID: 20167696
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BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.
Neveling K, et al. Among authors: bosgoed e.
Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
Clin Chem. 2017.
PMID: 27974384
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Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
Diekstra A, Bosgoed E, Rikken A, van Lier B, Kamsteeg EJ, Tychon M, Derks RC, van Soest RA, Mensenkamp AR, Scheffer H, Neveling K, Nelen MR.
Diekstra A, et al. Among authors: bosgoed e.
Clin Chem. 2015 Jan;61(1):154-62. doi: 10.1373/clinchem.2014.225250. Epub 2014 Oct 1.
Clin Chem. 2015.
PMID: 25274553
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Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM.
Schobers G, et al. Among authors: bosgoed e.
Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y.
Genome Med. 2024.
PMID: 38355605
Free PMC article.
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