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PubPharm (12)
1
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
enthalten in:
Molecular therapy : the journal of the American Society of Gene Therapy
| 2024
von
Suárez-Herrera, N.
|
Riswick, I.
|
Vázquez-Domínguez, I.
| +8
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2
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
enthalten in:
Cells
| 2022
von
Vázquez-Domínguez, I.
|
Duijkers, L.
|
Fadaie, Z.
| +13
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3
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
enthalten in:
Stem cell research
| 2022
von
de Jong, S.
|
Koolen, L.
|
Vázquez-Domínguez, I.
| +6
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4
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
enthalten in:
Stem cell research
| 2022
von
de Jong, S.
|
Koolen, L.
|
Vázquez-Domínguez, I.
| +6
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5
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
enthalten in:
Investigative ophthalmology & visual science
| 2022
von
Vázquez-Domínguez, I.
|
Li, C.
|
Fadaie, Z.
| +5
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6
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65
enthalten in:
Stem cell research
| 2022
von
Vázquez-Domínguez, I.
|
Kwint, M.
|
Kroes, H.
| +7
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7
Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides
enthalten in:
Methods in molecular biology (Clifton, N.J.)
| 2022
von
Vázquez-Domínguez, I.
|
Garanto, A.
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8
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease
enthalten in:
Archivos de bronconeumologia
| 2021
von
Matamala, N.
|
Lara, B.
|
Gómez-Mariano, G.
| +21
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9
Exploiting the passenger ACO1-deficiency arising from 9p21 deletions to kill T-cell lymphoblastic neoplasia cells
enthalten in:
Carcinogenesis
| 2020
von
Gonzalez-Sanchez, L.
|
Cobos-Fernandez, M.
|
Lopez-Nieva, P.
| +11
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10
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease
enthalten in:
Archivos de bronconeumologia
| 2020
von
Matamala, N.
|
Lara, B.
|
Gómez-Mariano, G.
| +21
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1
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Methods in molecular biology (Clifton, N.J.)
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Molecular therapy : the journal of the American...
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Oncogene
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Research Support, Non-U.S. Gov't
2
Alpha-1 antitrypsin deficiency
2
Complement Factor I
2
Déficit de alfa-1 antitripsina
2
EC 3.4.21.45
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2
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2
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2
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inherited retinal diseases
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microARNs
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microRNA
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3' Untranslated Regions
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357-89-1
1
AAV
1
ABCA4
1
ABCA4 protein, human
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2020-
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2010-2019
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