Publications by authors named "Sorina M Papuc"

6Publications

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Clin Dysmorphol 2017 Jul;26(3):187-189

aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000180DOI Listing
July 2017

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9955-8DOI Listing
September 2016

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.

Hum Mol Genet 2016 Apr 10;25(7):1294-306. Epub 2016 Jan 10.

Department of Molecular, Cellular, and Developmental Biology, Neuroscience Research Institute, Biomolecular Science and Engineering Program,

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http://dx.doi.org/10.1093/hmg/ddw010DOI Listing
April 2016

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015