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Hanno Joern Bolz

University Medical Center Freiburg

9

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Gene panel diagnosis for retinitis pigmentosa - phenotypic characteristics of unresolved cases

2015 Investigative Ophthalmology & Visual Science
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PEX6 mutation causing deafblindness with enamel dysplasia and microcephaly

2015 Investigative Ophthalmology & Visual Science
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A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod–cone dystrophy phenotype on the Arabian Peninsula

2015 British Journal of Ophthalmology
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Correlation of the fundus autofluorescence pattern with retinal layer thickness in patients with retinitis pigmentosa

2015 Investigative Ophthalmology & Visual Science
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Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

2012 Labmedicine
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