Publications by authors named "Barbara Zoll"

24Publications

A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know.

Am J Med Genet B Neuropsychiatr Genet 2019 12 9;180(8):576-588. Epub 2019 Jul 9.

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

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http://dx.doi.org/10.1002/ajmg.b.32751DOI Listing
December 2019

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Neurol Genet 2017 Aug 10;3(4):e167. Epub 2017 Jul 10.

Institute of Human Genetics (M.S., B.Z., S.P.), Department of Neurology (J.Z., J.S.), and Department of Neuroradiology (P.H.), University Medical Center Göttingen; Department of Human Genetics (W.K.), University of Würzburg; and CeGaT GmbH und Praxis für Humangenetik (J.M.), Tübingen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524525PMC
August 2017

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Mol Genet Genomic Med 2017 Jan 20;5(1):21-27. Epub 2016 Dec 20.

Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany.

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http://dx.doi.org/10.1002/mgg3.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241208PMC
January 2017

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Mol Cytogenet 2014 23;7(1):74. Epub 2014 Oct 23.

Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1186/s13039-014-0074-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064PMC
October 2014

Tectonic gene mutations in patients with Joubert syndrome.

Eur J Hum Genet 2015 May 13;23(5):616-20. Epub 2014 Aug 13.

1] Center for Human Genetics Bioscientia, Ingelheim, Germany [2] Department of Nephrology & Center for Clinical Research, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402635PMC
May 2015

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Hum Mol Genet 2014 Aug 4;23(16):4396-405. Epub 2014 Apr 4.

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany

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http://hmg.oxfordjournals.org/content/23/16/4396.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu156
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http://dx.doi.org/10.1093/hmg/ddu156DOI Listing
August 2014

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Mol Cytogenet 2014 Jan 23;7(1). Epub 2014 Jan 23.

Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1186/1755-8166-7-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905920PMC
January 2014

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Am J Med Genet A 2013 Oct 15;161A(10):2634-40. Epub 2013 Aug 15.

Institute of Human Genetics, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36129DOI Listing
October 2013

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Eur J Med Genet 2012 Aug-Sep;55(8-9):480-4. Epub 2012 Jun 4.

Institute of Human Genetics, University of Göttingen, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.05.004DOI Listing
November 2012

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

Am J Med Genet A 2009 Dec;149A(12):2832-7

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str. 40, 37075 Göttingen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.33111
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http://dx.doi.org/10.1002/ajmg.a.33111DOI Listing
December 2009

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Am J Med Genet A 2007 May;143A(10):1091-9

Institut für Humangenetik, Georg-August-Universität Göttingen, Heinrich-Düker-Weg 12, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31686DOI Listing
May 2007

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.

Eur J Med Genet 2007 Mar-Apr;50(2):133-8. Epub 2006 Nov 10.

Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg 12, D-37073 Goettingen, Lower Saxonia, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.007DOI Listing
May 2007

Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents.

Eur Arch Otorhinolaryngol 2006 Jan 24;263(1):53-61. Epub 2005 Jun 24.

Department of Otolaryngology and Head and Neck Surgery, Philipps University of Marburg, Deutschhausstrasse 3, 35037 Marburg, Germany.

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http://dx.doi.org/10.1007/s00405-005-0956-8DOI Listing
January 2006