نتائج البحث

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

• Authors : Suga, Akiko; Mizobuchi, Kei; Inooka, Taiga ...

• Source: Genetics in Medicine Open ; page 101843 ; ISSN 2949-7744

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First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia

• Authors : Michaelides, Michel; Hirji, Nashila; Wong, Sui Chien

• Source: American Journal of Ophthalmology , 253 pp. 243-251. (2023)

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Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia

• Authors : Jung, Ronja; Kempf, Melanie; Pohl, Lisa ...

Subjects: Cellular and Molecular Neuroscience; Sensory Systems; Ophthalmology

• Source: Experimental Eye Research ; volume 226, page 109349 ; ISSN 0014-4835

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Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

• Authors : Solaki, Maria; Wissinger, Bernd; Kohl, Susanne ...

Subjects: Genetics (clinical)

• Source: Genetics in Medicine ; volume 25, issue 12, page 100979 ; ISSN 1098-3600

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Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

• Authors : Molz, Barbara; Herbik, Anne; Baseler, Heidi A. ...

Subjects: Cognitive Neuroscience; Neurology (clinical); Neurology

• Source: NeuroImage: Clinical ; volume 33, page 102925 ; ISSN 2213-1582

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Comparing retinal structure in patients with achromatopsia and blue cone monochromacy using optical coherence tomography

• Authors : Patterson, EJ; Langlo, CS; Georgiou, M

• Source: Ophthalmology Science , Article 100047. (2021)

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Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT

• Authors : Patterson, Emily J.; Langlo, Christopher S.; Georgiou, Michalis

Subjects: Ophthalmology

• Source: Ophthalmology Science ; volume 1, issue 3, page 100047 ; ISSN 2666-9145

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PRO58 Beyond Color Blindness: The Patient and Societal IMPACT of Photoaversion and Vision Loss Associated with Achromatopsia

• Authors : Chivers, M.; Pan, F.; Li, N.

Subjects: Public Health, Environmental and Occupational Health; Health Policy

• Source: Value in Health ; volume 24, page S207-S208 ; ISSN 1098-3015

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Repositioning of strongly integrated drugs against achromatopsia (CNGB3)

• Authors : Zainab, Bibi; Ayaz, Zainab; Munir, Anum

Subjects: Multidisciplinary

• Source: Journal of King Saud University - Science ; volume 32, issue 3, page 1793-1811 ; ISSN 1018-3647

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Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene

• Authors : Domingo-Prim, Judit; Abad-Morales, Víctor; Riera, Marina ...

Subjects: Cell Biology; Developmental Biology; General Medicine

• Source: Stem Cell Research ; volume 40, page 101569 ; ISSN 1873-5061

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