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Showing results (121-130 of 148) with videos related to

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Kidney International|June 21, 2021
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathyJohannes Birtel, Georg Spital, Marius Book, 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.
Nature Neuroscience|December 7, 2010
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessShahid M Baig, Alexandra Koschak, Andreas Lieb, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Pageof 15

Showing results (121-130 of 148) with videos related to

Sort By:
Pageof 15
Kidney International|June 21, 2021
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathyJohannes Birtel, Georg Spital, Marius Book, 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.
Nature Neuroscience|December 7, 2010
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessShahid M Baig, Alexandra Koschak, Andreas Lieb, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Pageof 15