 | Up a level |
2018
Khan, A. O., Budde, B. S., Nuernberg, P., Kawalia, A., Lenzner, S. and Bolz, H. J. (2018). Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. Clin. Genet., 93 (1). S. 149 - 155. HOBOKEN: WILEY. ISSN 1399-0004
2017
Bolz, H. J. (2017). Next-Generation Sequencing: A Quantum Leap in Ophthalmology Research and Diagnostics. Klinische Monatsblat. Augenheilkunde, 234 (3). S. 280 - 289. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999
Laiou, C. Papadopoulou, Preising, M. N., Bolz, H. J. and Lorenz, B. (2017). Genotype-Phenotype Correlations in Patients with CRB1 Mutations. Klinische Monatsblat. Augenheilkunde, 234 (3). S. 289 - 303. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999
Neuhaus, C., Lang-Roth, R., Zimmermann, U., Heller, R., Eisenberger, T., Weikert, M., Markus, S., Knipper, M. and Bolz, H. J. (2017). Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). Clin. Genet., 91 (6). S. 892 - 902. HOBOKEN: WILEY. ISSN 1399-0004
Preising, M. N. and Bolz, H. J. (2017). Segregation Analysis in Inherited Eye Disorders: An Academic Add-on or An Essential Effort? Klinische Monatsblat. Augenheilkunde, 234 (3). S. 272 - 280. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999
2016
Khan, A. O., Tamimi, M., Lenzner, S. and Bolz, H. J. (2016). Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. Clin. Genet., 90 (1). S. 96 - 99. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004