Auflistung nach Autor "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; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Sliesoraityte, Ieva; Zrenner, Eberhart; Wissinger, Bernd; Llavona Juez, Pablo; Dehmelt, Florian A.; Arrenberg, Aristides; Kühlewein, Laura (2021)
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

Schimpf-Linzenbold, Simone; Thaler, Sebastian; Kohl, Susanne; Wissinger, Bernd; Llavona Juez, Pablo; Yörük, Efdal (2017)
CDHR1 mutations in retinal dystrophies

Štingl, Katarína; Zrenner, Eberhart; Kohl, Susanne; Wissinger, Bernd; Weisschuh, Nicole; Mayer, Anja Kathrin; Llavona Juez, Pablo (2017)
Multimodal assessment of choroideremia patients defines pre-treatment characteristics

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

Kühlewein, Laura; Schöls, Ludger; Llavona Juez, Pablo; Grimm, Alexander; Zrenner, Eberhart; Kohl, Susanne (2019)
Quantitative genomics : influence of gene expression on inherited retinal dystrophies

Llavona Juez, Pablo (2018)

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