Publications by authors named "Eva Rossier"

19Publications

Menkes disease with discordant phenotype in female monozygotic twins.

Am J Med Genet A 2015 Nov 4;167A(11):2826-9. Epub 2015 Aug 4.

Department of Pediatrics and Neuropediatrics, SLK-Klinikum, Heilbronn, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6475897PMC
November 2015

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

BMC Med Genet 2014 Nov 30;15:127. Epub 2014 Nov 30.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-014-0127-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025PMC
November 2014

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.

Genomic Med 2007 11;1(1-2):65-73. Epub 2007 Jul 11.

Department of Human Genetics, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s11568-007-9008-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276891PMC
July 2011