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Sarah Hull

Showing results (41-50 of 66) with videos related to

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Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
American Journal of Ophthalmology|May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With MicrocephalySarah Hull, Gavin Arno, Pia Ostergaard, et al.
JAMA Ophthalmology|June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch SyndromeSarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathySophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Plos One|May 30, 2023
Quantitative cardiovascular magnetic resonance findings and clinical risk factors predict cardiovascular outcomes in breast cancer patientsJennifer M Kwan, Amit Arbune, Mariana L Henry, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Pageof 7

Showing results (41-50 of 66) with videos related to

Sort By:
Pageof 7
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
American Journal of Ophthalmology|May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With MicrocephalySarah Hull, Gavin Arno, Pia Ostergaard, et al.
JAMA Ophthalmology|June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch SyndromeSarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathySophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Plos One|May 30, 2023
Quantitative cardiovascular magnetic resonance findings and clinical risk factors predict cardiovascular outcomes in breast cancer patientsJennifer M Kwan, Amit Arbune, Mariana L Henry, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Pageof 7