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Rachel L Taylor

Showing results (11-20 of 25) with videos related to

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Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnosticsJamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
American Journal of Human Genetics|February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

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Pageof 3
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnosticsJamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
American Journal of Human Genetics|February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
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