1.Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

作　　者：Alexandre Matet ;Susanne Kohl ;Britta Baumann 等

出　　处：Scientific Reports. 2018 ;8(1):5665.doi:10.1038/s41598-018-23919-w

出版社：Springer Nature

文章 ID：230250866

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2.De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

作　　者：Elena Buena-Atienza ;Klaus Rüther ;Britta Baumann 等

出　　处：Scientific Reports. 2016 ;6(1).doi:10.1038/srep28253

出版社：Springer Nature

文章 ID：235864887

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3.CDHR1 mutations in retinal dystrophies

作　　者：Katarina Stingl ;Anja K. Mayer ;Pablo Llavona 等

出　　处：Scientific Reports. 2017 ;7(1).doi:10.1038/s41598-017-07117-8

出版社：Springer Nature

文章 ID：235892326

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4.A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

作　　者：Bo Chang ;Tanja Grau ;Susann Dangel 等

出　　处：Proceedings of the National Academy of Sciences. 2009 ;106(46):19581-19586.doi:10.1073/pnas.0907720106

出版社：The National Academy of Sciences of the United States of America

文章 ID：200592419

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5.Achromatopsia mutations target sequential steps of ATF6 activation

作　　者：Wei-Chieh Chiang ;Priscilla Chan ;Bernd Wissinger 等

出　　处：Proceedings of the National Academy of Sciences. 2017 ;114(2):400-405.doi:10.1073/pnas.1606387114

出版社：The National Academy of Sciences of the United States of America

文章 ID：191705236

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6.Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

作　　者：Irene Perea-Romero ;Gema Gordo ;Ionut F. Iancu 等

出　　处：Scientific Reports. 2021 ;11.doi:10.1038/s41598-021-89275-4

出版社：Springer Nature

文章 ID：1032088054

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7.The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

作　　者：Bernd Wissinger ;Britta Baumann ;Elena Buena-Atienza 等

出　　处：Proceedings of the National Academy of Sciences. 2022 ;119(27).doi:10.1073/pnas.2115538119

出版社：The National Academy of Sciences of the United States of America

文章 ID：1038614081

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