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Die Ophthalmologie|August 22, 2023
[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics]Hanno J Bolz, Constanze L Kochs, Frank G Holz, et al.
The British Journal of Ophthalmology|August 22, 2015
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary ciliumArif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, et al.
HGG Advances|April 2, 2025
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 geneChristian Betz, Björn Reusch, Thomas Langmann, et al.
The British Journal of Ophthalmology|March 19, 2013
The RPGRIP1-related retinal phenotype in childrenArif O Khan, Leen Abu-Safieh, Tobias Eisenberger, et al.
Nature|May 14, 1987
Substance P-immunoreactive retinal ganglion cells and their central axon terminals in the rabbitN Brecha, D Johnson, J Bolz, et al.
The British Journal of Ophthalmology|July 6, 2014
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delayArif O Khan, Saleh Al-Mesfer, Shahira Al-Turkmani, et al.
Neural Computation|December 8, 2000
An analysis of orientation and ocular dominance patterns in the visual cortex of cats and ferretsT Müller, M Stetter, M Hübener, et al.
The Journal of Arthroplasty|May 1, 2016
The Physician as the Provider at Risk: Rolling the DiceStephen B Murphy, Nicholas J Bolz, David P Terry, et al.
Ophthalmology. Retina|March 10, 2020
Peripapillary Sparing in Autosomal Recessive BestrophinopathyJohannes Birtel, Martin Gliem, Philipp Herrmann, et al.
Frontiers in Genetics|October 12, 2017
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense MutationMaha Zaki, Michaela Thoenes, Amit Kawalia, et al.
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