Browsing Universitätsbibliographie by Author "Llavona Juez, Pablo"

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A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J.; Rudolph, Gunther; Kuhlewein, Laura; Wissinger, Bernd (2021)
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

Llavona, Pablo; Pinelli, Michele; Mutarelli, Margherita; Singh Marwah, Veer; Schimpf-Linzenbold, Simone; Thaler, Sebastian; Yoeruek, Efdal; Vetter, Jan; Kohl, Susanne; Wissinger, Bernd (2017)
CDHR1 mutations in retinal dystrophies

Stingl, Katarina; Mayer, Anja K.; Llavona, Pablo; Mulahasanovic, Lejla; Rudolph, Guenther; Jacobson, Samuel G.; Zrenner, Eberhart; Kohl, Susanne; Wissinger, Bernd; Weisschuh, Nicole (2017)
Multimodal assessment of choroideremia patients defines pre-treatment characteristics

Seitz, Immanuel P.; Zhour, Ahmad; Kohl, Susanne; Llavona, Pablo; Peter, Tobias; Wilhelm, Barbara; Zrenner, Eberhart; Ueffing, Marius; Bartz-Schmidt, Karl Ulrich; Fischer, M. Dominik (2015)
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene

Kuehlewein, Laura; Schoels, Ludger; Llavona, Pablo; Grimm, Alexander; Biskup, Saskia; Zrenner, Eberhart; Kohl, Susanne (2019)
Quantitative genomics : influence of gene expression on inherited retinal dystrophies

Llavona Juez, Pablo (2018)

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