Items where Author is "van Huet, Ramon A. C."

2019

Verbakel, Sanne K. and van Huet, Ramon A. C. and den Hollander, Anneke I. and Geerlings, Maartje J. and Kersten, Eveline and Klevering, B. Jeroen and Klaver, Caroline C. W. and Plomp, Astrid S. and Wesseling, Nieneke L. and Bergen, Arthur A. B. and Nikopoulos, Konstantinos and Rivolta, Carlo and Ikeda, Yasuhiro and Sonoda, Koh-Hei and Wada, Yuko and Boon, Camiel J. F. and Nakazawa, Toru and Hoyng, Carel B. and Nishiguchi, Koji M.. (2019) Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. Investigative Ophthalmology & Visual Science, 60 (4). pp. 1192-1203.

2014

Nishiguchi, Koji M. and Avila-Fernandez, Almudena and van Huet, Ramon A. C. and Corton, Marta and Pérez-Carro, Raquel and Martín-Garrido, Esther and López-Molina, María Isabel and Blanco-Kelly, Fiona and Hoefsloot, Lies H. and van Zelst-Stams, Wendy A. and García-Ruiz, Pedro J. and Del Val, Javier and Di Gioia, Silvio Alessandro and Klevering, B. Jeroen and van de Warrenburg, Bart P. C. and Vazquez, Carlos and Cremers, Frans P. M. and García-Sandoval, Blanca and Hoyng, Carel B. and Collin, Rob W. J. and Rivolta, Carlo and Ayuso, Carmen. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8). pp. 1620-1627.