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Black, Graeme C.M.
~ 600
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french (1)
english (625)
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?
1
MIR204 n.37C>T variant as a cause of chorioretinal dystroph..:
Jedlickova, Jana
;
Vajter, Marie
;
Barta, Tomas
...
Clinical Genetics. 104 (2023) 4 - p. 418-426 , 2023
Link:
https://doi.org/10.1111/..
?
2
Assessing the Pathogenicity of In-Frame CACNA1F Indel Varia..:
Sallah, Shalaw R.
;
Sergouniotis, Panagiotis I.
;
Hardcastle, Claire
...
The Journal of Molecular Diagnostics. 24 (2022) 12 - p. 1232-1239 , 2022
Link:
https://doi.org/10.1016/..
?
3
Congenital hypertrophy of retinal pigment epithelium (CHRPE:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Lalloo, Fiona
;
Black, Graeme C.M.
- p. 453-455 , 2022
Link:
https://doi.org/10.1016/..
?
4
Retinal gene therapy in RPE-65 gene mediated inherited reti..:
Jalil, Assad
;
Ivanova, Tsveta
;
Moussa, George
..
Eye. 37 (2022) 9 - p. 1874-1877 , 2022
Link:
https://doi.org/10.1038/..
?
5
Genetic disorders and genetic variants:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Douzgou Houge, Sofia
;
Black, Graeme C.M.
;
Sergouniotis, Panagiotis I.
- p. 1-5 , 2022
Link:
https://doi.org/10.1016/..
?
6
Mast cell infiltration of the choroid and protease release ..:
Mcharg, Selina
;
Booth, Laura
;
Perveen, Rahat
...
Proceedings of the National Academy of Sciences. 119 (2022) 20 - p. , 2022
Link:
https://doi.org/10.1073/..
?
7
Progressive external ophthalmoplegia:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Kim, Ungsoo S.
;
Black, Graeme C.M.
;
Yu-Wai-Man, Patrick
- p. 425-428 , 2022
Link:
https://doi.org/10.1016/..
?
8
Contributors:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Aleman, Tomas S.
;
Amati-Bonneau, Patrizia
;
Arveiler, Benoît
... - p. xi-xiv , 2022
Link:
https://doi.org/10.1016/..
?
9
MRSD: A quantitative approach for assessing suitability of ..:
Rowlands, Charlie F.
;
Taylor, Algy
;
Rice, Gillian
...
The American Journal of Human Genetics. 109 (2022) 2 - p. 210-222 , 2022
Link:
https://doi.org/10.1016/..
?
10
Preface:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Black, Graeme C.M.
;
Ashworth, Jane L.
;
Sergouniotis, Panagiotis I.
- p. xv , 2022
Link:
https://doi.org/10.1016/..
?
11
Aniridia:
, In:
Clinical Ophthalmic Genetics and Genomics
,
Black, Graeme C.M.
;
Moosajee, Mariya
- p. 389-391 , 2022
Link:
https://doi.org/10.1016/..
?
12
Cover, Volume 42, Issue 2:
Poulter, James A.
;
Gravett, Molly S. C.
;
Taylor, Rachel L.
...
Human Mutation. 42 (2021) 2 - p. , 2021
Link:
https://doi.org/10.1002/..
?
13
New variants and in silico analyses in GRK1 associated Oguc..:
Poulter, James A.
;
Gravett, Molly S. C.
;
Taylor, Rachel L.
...
Human Mutation. 42 (2020) 2 - p. 164-176 , 2020
Link:
https://doi.org/10.1002/..
?
14
Real-World Clinical Experience With Idebenone in the Treatm..:
Catarino, Claudia B.
;
von Livonius, Bettina
;
Priglinger, Claudia
...
Journal of Neuro-Ophthalmology. 40 (2020) 4 - p. 558-565 , 2020
Link:
https://doi.org/10.1097/..
?
15
Using an integrative machine learning approach utilising ho..:
Sallah, Shalaw R.
;
Sergouniotis, Panagiotis I.
;
Barton, Stephanie
...
European Journal of Human Genetics. 28 (2020) 9 - p. 1274-1282 , 2020
Link:
https://doi.org/10.1038/..
1-15
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