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1 . Academic Journal
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
저자
by
Rebekkah J. Hitti-Malin
;
Daan M. Panneman
;
Zelia Corradi
;
Erica G. M. Boonen
;
Galuh Astuti
, et al.
소스
Biomolecules, Vol 14, Iss 3, p 367 (2024)
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7 . Academic Journal
Face Recognition Characteristics in Patients with Age-Related Macular Degeneration Determined Using a Virtual Reality Headset with Eye Tracking
저자
by
Nina Žugelj
;
Lara Peterlin
;
Urša Muznik
;
Pia Klobučar
;
Polona Jaki Mekjavić
, et al.
소스
Journal of Clinical Medicine, Vol 13, Iss 2, p 636 (2024)
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7 . Academic Journal
Leberjeva hereditarna optična nevropatija – pregled bolezni z analizo prisotnosti v Sloveniji
저자
by
Rok Šega
;
Jan Burgar
;
Ana Fakin
;
Sanja Petrović Pajić
;
Marija Volk
, et al.
소스
Zdravniški Vestnik, Vol 91, Iss 9-10, Pp 398-411 (2022)
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7 . Academic Journal
Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
저자
by
Sanja Petrovic Pajic
;
Ana Fakin
;
Maja Sustar Habjan
;
Martina Jarc-Vidmar
;
Marko Hawlina
.
소스
Journal of Clinical Medicine, Vol 12, Iss 20, p 6669 (2023)
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7 . Academic Journal
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
저자
by
Jana Sajovic
;
Andrej Meglič
;
Ana Fakin
;
Jelka Brecelj
;
Maja Šuštar Habjan
, et al.
소스
Genes, Vol 14, Iss 7, p 1394 (2023)
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7 . Academic Journal
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series
저자
by
Sanja Petrovic Pajic
;
Martina Jarc-Vidmar
;
Ana Fakin
;
Maja Sustar Habjan
;
Jelka Brecelj
, et al.
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Frontiers in Neurology, Vol 13 (2022)
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7 . Academic Journal
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
저자
by
Manca Tekavčič Pompe
;
Nika Vrabič
;
Marija Volk
;
Andrej Meglič
;
Martina Jarc-Vidmar
, et al.
소스
Current Issues in Molecular Biology, Vol 43, Iss 2, Pp 941-957 (2021)
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7 . Academic Journal
Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
저자
by
Katja Čadonič
;
Jana Sajovic
;
Marko Hawlina
;
Ana Fakin
.
소스
Genes, Vol 14, Iss 3, p 652 (2023)
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6 . Academic Journal
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy
저자
by
Vlasta Hadalin
;
Maša Buscarino
;
Jana Sajovic
;
Andrej Meglič
;
Martina Jarc-Vidmar
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3840 (2023)
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7 . Academic Journal
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene
저자
by
Jana Sajovic
;
Andrej Meglič
;
Marija Volk
;
Aleš Maver
;
Martina Jarc-Vidmar
, et al.
소스
Genes, Vol 14, Iss 2, p 291 (2023)
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