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PubPharm (168)
61
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus : evidence of paternal postzygotic mosaicism
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Lima Cunha, D.
|
Owen, N.
|
Tailor, V.
| +3
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62
High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease
enthalten in:
Access microbiology
| 2021
von
Soria, M.
|
Cortón, M.
|
Martínez-González, B.
| +15
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63
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
enthalten in:
Scientific reports
| 2021
von
Perea-Romero, I.
|
Gordo, G.
|
Iancu, I.
| +114
ErratumIn: Sci Rep. 2021 May 10;11(1):10340. - PMID 33972629
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64
CSVS, a crowdsourcing database of the Spanish population genetic variability
enthalten in:
Nucleic acids research
| 2021
von
Peña-Chilet, M.
|
Roldán, G.
|
Perez-Florido, J.
| +58
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65
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
enthalten in:
American journal of ophthalmology
| 2020
von
Del Pozo-Valero, M.
|
Riveiro-Alvarez, R.
|
Blanco-Kelly, F.
| +15
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66
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
enthalten in:
Human genetics
| 2020
von
Bonet-Fernández, J.
|
Aroca-Aguilar, J.
|
Corton, M.
| +17
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67
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Marakhonov, A.
|
Voskresenskaya, A.
|
Ballesta, M.
| +10
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68
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Marakhonov, A.
|
Voskresenskaya, A.
|
Ballesta, M.
| +10
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69
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Marakhonov, A.
|
Voskresenskaya, A.
|
Ballesta, M.
| +10
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70
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
enthalten in:
Human molecular genetics
| 2020
von
Bedoni, N.
|
Quinodoz, M.
|
Pinelli, M.
| +17
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109
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75
Research Support, Non-U.S. Gov't
22
Eye Proteins
9
COVID-19
8
ABCA4 protein, human
8
ATP-Binding Cassette Transporters
8
Case Reports
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Biology
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570
6
9007-49-2
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Adaptor Proteins, Signal Transducing
6
Aniridia
6
DNA
6
EC 3.6.1.-
6
Extracellular Matrix Proteins
6
Microtubule-Associated Proteins
6
Published Erratum
5
PAX6 Transcription Factor
5
PAX6 protein, human
5
Research Support, N.I.H., Extramural
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