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- University of Regensburg (5)
- Medicine (5)
- Lehrstuhl für Humangenetik (5)
- Medicine (5)
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Chen, Connie J. and Kaufman, Stuart and Packo, Kirk and Stoehr, Heidi and Weber, Bernhard H. F. and Goldberg, Morton F. (2016) Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. OPHTHALMIC GENETICS, 37 (1). pp. 102-108. ISSN 1381-6810, 1744-5094
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Keilhauer, Claudia N. and Meigen, Thomas and Stoehr, Heidi and Weber, Bernhard H. F. (2006) Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. OPHTHALMIC GENETICS, 27 (4). pp. 139-144. ISSN 1381-6810
Kellner, Simone and Stoehr, Heidi and Fiebig, Britta and Weinitz, Silke and Farmand, Ghazaleh and Kellner, Ulrich and Weber, Bernhard H. F. (2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. OPHTHALMIC GENETICS, 37 (2). pp. 201-208. ISSN 1381-6810, 1744-5094
Kellner, Ulrich and Stoehr, Heidi and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard H. F. (2017) Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. OPHTHALMIC GENETICS, 38 (4). pp. 340-344. ISSN 1381-6810, 1744-5094
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Morsczeck, Christian and Korenkov, Michael and Nagelschmidt, Manfred and Feher, Domonkos and Schierholz, Joerg Michael (2008) Total RNA-isolation of abdominal hernia of rats for quantitative real-time reverse transcription (RT) PCR assays. PREPARATIVE BIOCHEMISTRY & BIOTECHNOLOGY, 38 (1). pp. 87-93. ISSN 1082-6068

