Publications by authors named "Lia Knegt"

9Publications

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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March 2017

Trisomy 4 mosaicism: Delineation of the phenotype.

Am J Med Genet A 2016 Apr 20;170A(4):1040-5. Epub 2016 Jan 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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April 2016

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

Am J Med Genet A 2016 Feb 24;170A(2):510-514. Epub 2015 Nov 24.

Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.

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February 2016

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Am J Med Genet A 2016 Feb 10;170A(2):504-509. Epub 2015 Nov 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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February 2016

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.

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May 2011

Communication with patients during the prenatal testing procedure: an explorative qualitative study.

Patient Educ Couns 2006 Oct 6;63(1-2):161-8. Epub 2006 Jan 6.

Academic Medical Center, University of Amsterdam, Division Clinical Methods and Public Health, Department of General Practice, Family Medicine, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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October 2006