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/vufind/Search/Results?lookfor=%22Karali%2C+Marianthi%22&type=Person&sort=year
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PubPharm (60)
1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
enthalten in:
bioRxiv.org
| 2024
von
Panneman, D.
|
Hitti-Malin, R.
|
Holtes, L.
| +45
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2
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis
enthalten in:
JAMA ophthalmology
| 2024
von
Cornelis, S.
|
IntHout, J.
|
Runhart, E.
| +45
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3
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
enthalten in:
American journal of medical genetics. Part A
| 2024
von
De Falco, A.
|
Karali, M.
|
Criscuolo, C.
| +10
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4
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
enthalten in:
Biomolecules
| 2024
von
Hitti-Malin, R.
|
Panneman, D.
|
Corradi, Z.
| +57
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5
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice
enthalten in:
Ophthalmology. Retina
| 2024
von
Melillo, P.
|
Testa, F.
|
Di Iorio, V.
| +6
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6
Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
De Falco, A.
|
Karali, M.
|
Criscuolo, C.
| +10
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7
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
enthalten in:
Frontiers in cell and developmental biology
| 2023
von
Panneman, D.
|
Hitti-Malin, R.
|
Holtes, L.
| +45
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8
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
enthalten in:
Scientific reports
| 2022
von
Karali, M.
|
Testa, F.
|
Di Iorio, V.
| +15
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9
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
enthalten in:
Scientific reports
| 2022
von
Testa, F.
|
Melillo, P.
|
Di Iorio, V.
| +7
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10
VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
enthalten in:
bioRxiv.org
| 2022
von
Musacchia, F.
|
Karali, M.
|
Torella, A.
| +7
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MicroRNAs
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Eye Proteins
5
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retinitis pigmentosa
3
ABCA4 protein, human
3
ATP-Binding Cassette Transporters
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inherited retinal diseases
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microRNA
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147336-22-9
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9007-49-2
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EC 3.1.1.64
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2020-
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2010-2019
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2000-2009
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