Publications by authors named "Juergen Kohlhase"

11Publications

Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

J Pediatr Genet 2019 Sep 9;8(3):163-167. Epub 2019 Apr 9.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1055/s-0039-1684017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688877PMC
September 2019

Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.

Geburtshilfe Frauenheilkd 2017 May 24;77(5):495-507. Epub 2017 May 24.

Institute of Pathology, WG Fetal Pathology, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1055/s-0043-103459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444532PMC
May 2017

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.

J Invest Dermatol 2016 05 15;136(5):1056-1059. Epub 2016 Feb 15.

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.11.031DOI Listing
May 2016

Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Case Rep Ophthalmol Med 2015 29;2015:637084. Epub 2015 Jun 29.

Department of Ophthalmology, University of Cologne, 50937 Cologne, Germany.

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http://dx.doi.org/10.1155/2015/637084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499622PMC
July 2015

Child Neurology: PRRT2-associated movement disorders and differential diagnoses.

Neurology 2014 Oct;83(18):1680-3

From the Division of Pediatric Neurology (D.E.-F., K.-S.K., U.K., B.E.A.), Department of Pediatrics I, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg; Center for Human Genetics (J.K.), Freiburg; and the Institute of Neurogenetics (C.K.), University of Lübeck, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000936DOI Listing
October 2014

Iatrogenic vitamin D deficiency in a patient with Gorlin syndrome: the conundrum of photoprotection.

Acta Derm Venereol 2014 Jul;94(4):459-60

Department of Dermatology, University Freiburg - Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-1714DOI Listing
July 2014

Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.

J Pediatr Endocrinol Metab 2012 ;25(1-2):147-8

Department of Endocrinology and Internal Medicine, Medical University of Gdansk, Gdansk, Poland.

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http://dx.doi.org/10.1515/jpem.2011.400DOI Listing
May 2012