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1 . Academic Journal
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights
저자
by
Giacomo M. Bacci
;
Elisa Marziali
;
Sara Bargiacchi
;
Michel Paques
;
Gianni Virgili
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
Spontaneous Ectopia Lentis in Retinitis Pigmentosa: A Case Report and Review of the Literature
저자
by
Cristina Nicolosi
;
Giulio Vicini
;
Lorenzo Beni
;
Noemi Lombardi
;
Marco Branchetti
, et al.
소스
Medicina, Vol 60, Iss 8, p 1281 (2024)
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7 . Academic Journal
Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report
저자
by
Fabrizio Giansanti
;
Cristina Nicolosi
;
Dario Giorgio
;
Andrea Sodi
;
Dario Pasquale Mucciolo
, et al.
소스
Genes, Vol 15, Iss 7, p 879 (2024)
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7 . Academic Journal
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
저자
by
Vittoria Murro
;
Sandro Banfi
;
Francesco Testa
;
Giancarlo Iarossi
;
Benedetto Falsini
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
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7 . Academic Journal
Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients
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by
Marco Piergentili
;
Vito Spagnuolo
;
Vittoria Murro
;
Dario Pasquale Mucciolo
;
Dario Giorgio
, et al.
소스
Medicina, Vol 60, Iss 5, p 797 (2024)
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7 . Academic Journal
An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65
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by
Giulio Poli
;
Gian Carlo Demontis
;
Andrea Sodi
;
Alessandro Saba
;
Stanislao Rizzo
, et al.
소스
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1 (2023)
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7 . Academic Journal
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
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by
Giulio Poli
;
Ivana Barravecchia
;
Gian Carlo Demontis
;
Andrea Sodi
;
Alessandro Saba
, et al.
소스
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 1765-1772 (2022)
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7 . Academic Journal
Percorso diagnostico-terapeutico e modello organizzativo per l’erogazione della terapia genica nelle distrofie retiniche ereditarie in real-life
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by
Francesco Bandello
;
Maurizio Battaglia Parodi
;
Leonardo Colombo
;
Fabrizio Giansanti
;
Marcello Pani
, et al.
소스
AboutOpen, Vol 10, Iss 1 (2023)
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7 . Academic Journal
The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies
저자
by
Valentina Becherucci
;
Giacomo Maria Bacci
;
Elisa Marziali
;
Andrea Sodi
;
Franco Bambi
, et al.
소스
Biomedicines, Vol 11, Iss 10, p 2656 (2023)
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7 . Academic Journal
Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report
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by
Vittoria Murro
;
Dario Pasquale Mucciolo
;
Dario Giorgio
;
Tomaso Caporossi
;
Ilaria Passerini
, et al.
소스
International Journal of Retina and Vitreous, Vol 7, Iss 1, Pp 1-5 (2021)
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