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Showing results (111-120 of 148) with videos related to

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Clinical & Experimental Ophthalmology|April 13, 2019
Genetic testing in patients with retinitis pigmentosa: Features of unsolved casesJohannes Birtel, Martin Gliem, Akio Oishi, et al.
Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.
European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
Investigative Ophthalmology & Visual Science|August 7, 2019
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingPeter Charbel Issa, Martin Gliem, Imran H Yusuf, et al.
Investigative Ophthalmology & Visual Science|August 9, 2017
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal CiliopathyJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
The Journal of Investigative Dermatology|June 15, 2012
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbingJutta Busch, Valeska Frank, Nadine Bachmann, et al.
Pediatric Nephrology (Berlin, Germany)|February 8, 2014
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathiesHenry Fehrenbach, Christian Decker, Tobias Eisenberger, et al.
Plos One|December 14, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
Nature Communications|September 13, 2023
The tectonic complex regulates membrane protein composition in the photoreceptor ciliumHanh M Truong, Kevin O Cruz-Colón, Jorge Y Martínez-Márquez, et al.
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.
Pageof 15

Showing results (111-120 of 148) with videos related to

Sort By:
Pageof 15
Clinical & Experimental Ophthalmology|April 13, 2019
Genetic testing in patients with retinitis pigmentosa: Features of unsolved casesJohannes Birtel, Martin Gliem, Akio Oishi, et al.
Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.
European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
Investigative Ophthalmology & Visual Science|August 7, 2019
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingPeter Charbel Issa, Martin Gliem, Imran H Yusuf, et al.
Investigative Ophthalmology & Visual Science|August 9, 2017
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal CiliopathyJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
The Journal of Investigative Dermatology|June 15, 2012
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbingJutta Busch, Valeska Frank, Nadine Bachmann, et al.
Pediatric Nephrology (Berlin, Germany)|February 8, 2014
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathiesHenry Fehrenbach, Christian Decker, Tobias Eisenberger, et al.
Plos One|December 14, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
Nature Communications|September 13, 2023
The tectonic complex regulates membrane protein composition in the photoreceptor ciliumHanh M Truong, Kevin O Cruz-Colón, Jorge Y Martínez-Márquez, et al.
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.
Pageof 15