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Journal of Human Genetics|April 27, 2023
Expanding the phenotypic spectrum and clinical severity associated with WLS geneGhada M H Abdel-Salam, Hanan H Afifi, Mohamed S Abdel-Hamid, et al.
Kidney International|June 21, 2021
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathyJohannes Birtel, Georg Spital, Marius Book, et al.
Molecular Psychiatry|September 25, 2013
Chronic γ-secretase inhibition reduces amyloid plaque-associated instability of pre- and postsynaptic structuresS Liebscher, R M Page, K Käfer, et al.
Scientific Reports|March 21, 2018
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophyJohannes Birtel, Tobias Eisenberger, Martin Gliem, et al.
Plos One|February 4, 2015
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney diseaseTobias Eisenberger, Christian Decker, Milan Hiersche, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyPhilipp L Müller, Martin Gliem, Elisabeth Mangold, et al.
JAMA Ophthalmology|May 26, 2018
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis PigmentosaPeter Charbel Issa, Peggy Reuter, Laura Kühlewein, et al.
Molecular Vision|March 31, 2010
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse originElena Aller, Teresa Jaijo, Erwin van Wijk, et al.
Human Mutation|November 24, 2015
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyMaha S Zaki, Raoul Heller, Michaela Thoenes, et al.
JCI Insight|October 7, 2025
CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposesValentin J Weber, Alice Reschigna, Maximilian J Gerhardt, et al.
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