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Shiqin Yuan, Rui Qi, Xinhe Fang, Xiaoguang Wang, Liang Zhou & Xunlun Sheng. (2020) Two novel PDE6C gene mutations in Chinese family with achromatopsia. Ophthalmic Genetics 41:6, pages 591-598.
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Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger & Susanne Kohl. (2022)
Comprehensive variant spectrum of the
CNGA3
gene in patients affected by achromatopsia
. Human Mutation 43:7, pages 832-858.
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Luigi Donato, Concetta Scimone, Simona Alibrandi, Ebtesam Mohamed Abdalla, Karim Mahmoud Nabil, Rosalia D’Angelo & Antonina Sidoti. (2020) New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?. International Journal of Molecular Sciences 22:1, pages 70.
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Malena Daich Varela, Ehsan Ullah, Sairah Yousaf, Brian P. Brooks, Robert B. Hufnagel & Laryssa A. Huryn. (2020) PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Investigative Opthalmology & Visual Science 61:12, pages 1.
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Judit Domingo-Prim, Víctor Abad-Morales, Marina Riera, Rafael Navarro, Borja Corcostegui & Esther Pomares. (2019) Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene. Stem Cell Research 40, pages 101569.
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