Ngā hua rapu kaituhi

1

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

Tiaki ki tētahi rārangi

I tiakina i:
2

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

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
3

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

I whakaputaina 2021

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
4

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

I whakaputaina 2017

Whiwhi kuputuhi katoa
Revisão

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I tiakina i:
5

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

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
6

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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
7

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

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 2002

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
9

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

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
10

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

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
12

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
13

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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
14

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

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
15

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

I whakaputaina 2007

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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I tiakina i:
16

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

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
17

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

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
18

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

I whakaputaina 2020

Whiwhi kuputuhi katoa
Artigo

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19

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

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
20

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

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:

The zebrafish eye—a paradigm for investigating human ocular genetics mā 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 mā James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

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

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders mā 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 mā James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY mā 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 mā Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

Genetic influence on early age-related maculopathy mā 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 mā 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 mā 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. mā 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> mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

Ngā hua rapu - Andrew R. Webster

The zebrafish eye—a paradigm for investigating human ocular genetics mā 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 mā James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

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

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders mā 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 mā James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY mā 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 mā Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

Genetic influence on early age-related maculopathy mā 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 mā 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 mā 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. mā 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> mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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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