Publications by authors named "Sara Ekvall"

11Publications

Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment.

Clin Chem Lab Med 2019 06;57(7):1006-1011

Department of Medical Sciences, Section of Clinical Chemistry, Uppsala University, Akademiska Sjukhuset, Entrance 61, 3rd Floor, Uppsala SE-75185, Sweden, Phone: +46 18 611 00 00, Fax: +46 18 611 37 03.

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June 2019

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

BMC Med Genet 2015 Oct 14;16:95. Epub 2015 Oct 14.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.

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October 2015

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

J Med Genet 2015 Mar 22;52(3):195-202. Epub 2015 Jan 22.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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March 2015

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):579-87. Epub 2013 Dec 19.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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March 2014

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Am J Med Genet A 2011 Jun 5;155A(6):1217-24. Epub 2011 May 5.

Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

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June 2011

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Eur J Med Genet 2010 May-Jun;53(3):117-21. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden.

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October 2010