Publications by authors named "Gotthold Barbi"

18Publications

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.

Clin Epigenetics 2017 13;9:111. Epub 2017 Oct 13.

Institute of Human Genetics, University of Ulm & Ulm University Hospital, Albert-Einstein-Allee 11, D-89081 Ulm, Germany.

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http://dx.doi.org/10.1186/s13148-017-0410-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640928PMC
May 2018

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Am J Med Genet A 2016 May 29;170A(5):1202-7. Epub 2016 Jan 29.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37560DOI Listing
May 2016

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

Sex Dev 2015 3;9(3):136-43. Epub 2015 Jun 3.

Division of Pediatric Surgery, Department of Surgery, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1159/000430897DOI Listing
July 2016

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