|
🐢
|
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
Dulce Lima Cunha,
G. Arno,
M. Cortón,
M. Moosajee
|
7 |
2019 |
7
🐢
|
|
🐜
|
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
23 auth.
A. Patel,
Jane D. Hayward,
V. Tailor,
R. Nyanhete,
H. Ahlfors,
Camila Gabriel,
T. Jannini,
Yassir Abbou-Rayyah,
R. Henderson,
K. Nischal,
...
L. Islam,
M. Bitner-Glindzicz,
J. Hurst,
L. Valdivia,
M. Zanolli,
M. Moosajee,
J. Brookes,
M. Papadopoulos,
P. Khaw,
T. Cullup,
L. Jenkins,
A. Dahlmann-Noor,
J. Sowden
|
6 |
2019 |
6
🐜
|
|
🐢
|
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
Maria Toms,
W. Pagarkar,
M. Moosajee
|
6 |
2020 |
6
🐢
|
|
🐢
|
USH2A-retinopathy: From genetics to therapeutics
Lyes Toualbi,
Maria Toms,
M. Moosajee
|
6 |
2020 |
6
🐢
|
|
🐢
|
The Molecular Basis of Human Anophthalmia and Microphthalmia
Philippa Harding,
M. Moosajee
|
5 |
2019 |
5
🐢
|
|
🐢
|
Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments
A. Mitsios,
A. Dubis,
M. Moosajee
|
5 |
2018 |
5
🐢
|
|
🦁
|
Clinical utility gene card for: Choroideremia
M. Moosajee,
S. Ramsden,
G. Black,
M. Seabra,
A. Webster
|
5 |
2013 |
5
🦁
|
|
🐢
|
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom
Daniel Jackson,
S. Malka,
Philippa Harding,
J. Palma,
H. Dunbar,
M. Moosajee
|
5 |
2020 |
5
🐢
|
|
🐜
|
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
11 auth.
Neringa Jurkute,
A. Majander,
R. Bowman,
M. Votruba,
S. Abbs,
J. Acheson,
...
G. Lenaers,
P. Amati‐Bonneau,
M. Moosajee,
G. Arno,
P. Yu-Wai-Man
|
5 |
2018 |
5
🐜
|
