Heinz Gabriel

Heinz Gabriel

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Heinz Gabriel

Heinz Gabriel

Publications by authors named "Heinz Gabriel"

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11Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.

J Neurol 2019 Mar 7;266(3):775-776. Epub 2019 Jan 7.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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http://link.springer.com/10.1007/s00415-019-09182-7
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http://dx.doi.org/10.1007/s00415-019-09182-7DOI Listing
March 2019

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Am J Med Genet A 2017 Aug 25;173(8):2289-2292. Epub 2017 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.38286DOI Listing
August 2017

First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.

Srp Arh Celok Lek 2013 Jul-Aug;141(7-8):490-4

Clinics of Dermatovenerology, Clinical Center of Serbia, Belgrade, Serbia.

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http://dx.doi.org/10.2298/sarh1308490mDOI Listing
November 2015

Clubfoot associated with preaxial polydactyly.

J Pediatr Orthop B 2014 Nov;23(6):505-11

aOrthopaedic Department, Olgahospital, Stuttgart bInstitute for Clinical Genetic Klinikum Stuttgart, Stuttgart, Germany cDepartment of Orthopaedics and Rheumatology, University Hospital Gieβen and Marburg, Marburg, Germany.

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http://dx.doi.org/10.1097/BPB.0000000000000084DOI Listing
November 2014

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

Clin Oral Investig 2013 Jan 28;17(1):1-8. Epub 2012 Mar 28.

School of Medicine, University of Belgrade, Deligradska 34, 11000, Belgrade, Serbia.

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http://dx.doi.org/10.1007/s00784-012-0721-5DOI Listing
January 2013

Clinical utility gene card for: Haemochromatosis [HFE].

Eur J Hum Genet 2010 Sep 3;18(9). Epub 2010 Feb 3.

Institute of Human Genetics, Medical School Hannover, Hannover, Germany.

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http://dx.doi.org/10.1038/ejhg.2009.245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987432PMC
September 2010

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications.

Nucleic Acids Res 2008 Nov 14;36(20):6450-8. Epub 2008 Oct 14.

Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1093/nar/gkn688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582609PMC
November 2008

Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.

Pathol Oncol Res 2007 7;13(3):255-9. Epub 2007 Oct 7.

Central Institute of Mental Health, Department of Child and Adolescent Psychiatry and Psychotherapy, Mannheim, Germany.

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http://dx.doi.org/10.1007/bf02893507DOI Listing
February 2008