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PubPharm (166)
1
Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy
enthalten in:
Current eye research
| 2024
von
Csorba, A.
|
Kormányos, K.
|
Csidey, M.
| +13
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2
PRPH2-Related Retinal Dystrophies : Mutational Spectrum in 103 Families from a Spanish Cohort
enthalten in:
International journal of molecular sciences
| 2024
von
Fernández-Caballero, L.
|
Martín-Merida, I.
|
Blanco-Kelly, F.
| +21
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3
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
enthalten in:
Communications biology
| 2024
von
Pérez-Jurado, L.
|
Cáceres, A.
|
Balagué-Dobón, L.
| +108
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4
Novel risk loci for COVID-19 hospitalization among admixed American populations
enthalten in:
bioRxiv.org
| 2024
von
Almeida, S.
|
Cruz, R.
|
Luchessi, A.
| +118
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5
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19
enthalten in:
HLA
| 2023
von
Castro-Santos, P.
|
Rojas-Martinez, A.
|
Riancho, J.
| +105
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6
Prioritization of new candidate genes for rare genetic diseases by a disease-aware evaluation of heterogeneous molecular networks
enthalten in:
bioRxiv.org
| 2023
von
de la Fuente, L.
|
Del Pozo-Valero, M.
|
Perea-Romero, I.
| +5
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7
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
enthalten in:
JCI insight
| 2023
von
Bocquet, B.
|
Borday, C.
|
Erkilic, N.
| +27
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8
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Kesim, Y.
|
Ceroni, F.
|
Damián, A.
| +12
ErratumIn: Eur J Hum Genet. 2023 Apr 28;:. - PMID 37106145
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9
Correction : Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Kesim, Y.
|
Ceroni, F.
|
Damián, A.
| +12
ErratumFor: Eur J Hum Genet. 2023 Oct;31(10):1175-1180. - PMID 36997679
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10
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
enthalten in:
American journal of ophthalmology
| 2023
von
Rodilla, C.
|
Martín-Merida, I.
|
Blanco-Kelly, F.
| +19
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109
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75
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22
Eye Proteins
9
COVID-19
8
ABCA4 protein, human
8
ATP-Binding Cassette Transporters
8
Case Reports
6
9007-49-2
6
Adaptor Proteins, Signal Transducing
6
Aniridia
6
Biology
6
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6
EC 3.6.1.-
6
Extracellular Matrix Proteins
6
Microtubule-Associated Proteins
6
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5
570
5
PAX6 Transcription Factor
5
PAX6 protein, human
5
Research Support, N.I.H., Extramural
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