Items where Author is "Hoefsloot, Lies H."
Number of items: 2. 2014Nishiguchi, 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. 2010Glueckert, Rudolf and Rask-Andersen, Helge and Sergi, Consolato and Schmutzhard, Joachim and Mueller, Bert and Beckmann, Felix and Rittinger, Olaf and Hoefsloot, Lies H. and Schrott-Fischer, Anneliese and Janecke, Andreas R.. (2010) Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. American journal of medical genetics. Part A, Vol. 152, H. 3. pp. 665-673. |