Dorien Schepers

Dorien Schepers

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Dorien Schepers

Dorien Schepers

Publications by authors named "Dorien Schepers"

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11Publications

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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

BMC Med Genet 2018 08 8;19(1):140. Epub 2018 Aug 8.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0655-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083619PMC
August 2018

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Ann Cardiothorac Surg 2017 Nov;6(6):582-594

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.21037/acs.2017.11.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721110PMC
November 2017

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Ann Neurol 2014 Mar 18;75(3):382-94. Epub 2014 Mar 18.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24080DOI Listing
March 2014