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Number of items: 4.

Journal Article

Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nuernberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nuernberg, Peter and Berger, Wolfgang (2014). Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. PLoS One, 9 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Owczarek-Lipska, Marta, Reiff, Charlotte, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain and Neidhardt, John (2016). Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain ORCID: 0000-0001-6729-3029 and Neidhardt, John (2016). The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nuernberg, Peter, Neidhardt, John and Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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