Resultados de Procura por Autor

1

The zebrafish eye—a paradigm for investigating human ocular genetics por Rose Richardson, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

Publicado 2016

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2

QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY por James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

Publicado 2017

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3

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome por Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno

Publicado 2021

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4

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders por Rose Richardson, Matthew Smart, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

Publicado 2017

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5

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy por James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

Publicado 2018

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6

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY por Kamron Khan, Omar A. Mahroo, Farrah Islam, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

Publicado 2016

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7

An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects por Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

Publicado 1998

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8

Genetic influence on early age-related maculopathy por Christopher J. Hammond, Andrew R. Webster, Harold Snieder, Alan C. Bird, Clare Gilbert, Tim D. Spector

Publicado 2002

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9

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation por Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney

Publicado 2023

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10

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis por Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

Publicado 2011

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11

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. por Eamonn R. Maher, Andrew R. Webster, Frances M. Richards, J S Green, Paul A. Crossey, Stewart J. Payne, Anthony T. Moore

Publicado 1996

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12

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4 por Ana Fakin, Anthony G. Robson, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, John Chiang, Graham E. Holder, Andrew R. Webster

Publicado 2016

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13

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients por Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster

Publicado 2016

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14

Coats-like Vasculopathy in Inherited Retinal Disease por Malena Daich Varela, Giovanni Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Hoai Viet Tran, Michel Michaelides

Publicado 2023

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15

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update por Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder

Publicado 2007

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16

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa por Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides

Publicado 2018

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17

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies por Leo Sheck, Wayne I. L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

Publicado 2018

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18

Photoreceptor Structure inGNAT2-Associated Achromatopsia por Michalis Georgiou, Navjit Singh, Thomas Kane, Anthony G. Robson, Angelos Kalitzeos, Nashila Hirji, Andrew R. Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Publicado 2020

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19

Autosomal Recessive Bestrophinopathy por Giuseppe Casalino, Kamron Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides

Publicado 2020

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20

ABCA4Gene Screening by Next-Generation Sequencing in a British Cohort por Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

Publicado 2013

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The zebrafish eye—a paradigm for investigating human ocular genetics por Rose Richardson, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY por James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome por Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders por Rose Richardson, Matthew Smart, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy por James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY por Kamron Khan, Omar A. Mahroo, Farrah Islam, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects por Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

Genetic influence on early age-related maculopathy por Christopher J. Hammond, Andrew R. Webster, Harold Snieder, Alan C. Bird, Clare Gilbert, Tim D. Spector

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation por Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis por Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. por Eamonn R. Maher, Andrew R. Webster, Frances M. Richards, J S Green, Paul A. Crossey, Stewart J. Payne, Anthony T. Moore

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i> por Ana Fakin, Anthony G. Robson, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, John Chiang, Graham E. Holder, Andrew R. Webster

The Effect on Retinal Structure and Function of 15 Specific <i>ABCA4</i> Mutations: A Detailed Examination of 82 Hemizygous Patients por Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster

Coats-like Vasculopathy in Inherited Retinal Disease por Malena Daich Varela, Giovanni Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Hoai Viet Tran, Michel Michaelides

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa por Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides

Photoreceptor Structure in<i>GNAT2</i>-Associated Achromatopsia por Michalis Georgiou, Navjit Singh, Thomas Kane, Anthony G. Robson, Angelos Kalitzeos, Nashila Hirji, Andrew R. Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Autosomal Recessive Bestrophinopathy por Giuseppe Casalino, Kamron Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides

<i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort por Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

Resultados de procura - Andrew R. Webster

The zebrafish eye—a paradigm for investigating human ocular genetics por Rose Richardson, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY por James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome por Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders por Rose Richardson, Matthew Smart, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy por James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY por Kamron Khan, Omar A. Mahroo, Farrah Islam, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects por Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

Genetic influence on early age-related maculopathy por Christopher J. Hammond, Andrew R. Webster, Harold Snieder, Alan C. Bird, Clare Gilbert, Tim D. Spector

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation por Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis por Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. por Eamonn R. Maher, Andrew R. Webster, Frances M. Richards, J S Green, Paul A. Crossey, Stewart J. Payne, Anthony T. Moore

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i> por Ana Fakin, Anthony G. Robson, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, John Chiang, Graham E. Holder, Andrew R. Webster

The Effect on Retinal Structure and Function of 15 Specific <i>ABCA4</i> Mutations: A Detailed Examination of 82 Hemizygous Patients por Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster

Coats-like Vasculopathy in Inherited Retinal Disease por Malena Daich Varela, Giovanni Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Hoai Viet Tran, Michel Michaelides

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa por Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides

Photoreceptor Structure in<i>GNAT2</i>-Associated Achromatopsia por Michalis Georgiou, Navjit Singh, Thomas Kane, Anthony G. Robson, Angelos Kalitzeos, Nashila Hirji, Andrew R. Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Autosomal Recessive Bestrophinopathy por Giuseppe Casalino, Kamron Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides

<i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort por Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

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