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Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study: A longitudinal study

• Authors : Jessica S. Karuntu; Xuan‐Thanh‐An Nguyen; Mays Talib ...

Subjects: Male; Adult; Adolescent

• Source: Karuntu, J S, Nguyen, X-T-A, Talib, M, van Schooneveld, M J, Wijnholds, J, van Genderen, M M, Schalij-Delfos, N E, Klaver, C C W, Meester-Smoor, M A, van den Born, L I, Hoyng, C B, Thiadens, A A H J,

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Efficacy of topical brinzolamide in children with retinal dystrophies

• Authors : Scruggs, Brittni A; Chen, Constance V; Pfeifer, Wanda

Subjects: Biomedical and Clinical Sciences; Ophthalmology and Optometry; Brain Disorders

• Source: Ophthalmic Genetics. 40(4)

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Analysis of Molecular Genetic Testing Referrals for Inherited Retinal Dystrophies in a Quebec Tertiary Care Center Over a Decade

• Authors : Alexandre Lachance; Mélanie Hébert; Marc Hébert

Subjects: 0301 basic medicine; Ophthalmology; 03 medical and health sciences

• Source: Clin OphthalmolClinical Ophthalmology, Vol Volume 16, Pp 239-244 (2022)

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Next‐generation sequencing targeted disease panel in rod‐cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

• Authors : Andrea L Vincent; Nandoun Abeysekera; Katherine A van Bysterveldt

Subjects: Adult; Male; 0301 basic medicine

• Source: Vincent, A L, Abeysekera, N, van Bysterveldt, K A, Oliver, V F, Ellingford, J M, Barton, S & Black, G C M 2017, 'Next-generation sequencing targeted disease panel in rod-cone

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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.

• Authors : Manley, Andrew¹ (AUTHOR); Meshkat, Bahar I.^1,2 (AUTHOR); Jablonski, Monica M.^1,3,4,5 (AUTHOR)

• Source: Biomolecules (2218-273X). Feb2023, Vol. 13 Issue 2, p271. 44p.

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Longitudinal analysis of health care costs in patients with childhood onset inherited retinal dystrophies compared to healthy controls

• Authors : Line Kessel; Jakob Kjellberg; Rikke Ibsen

Subjects: Inherited retinal dystrophy; Childhood visual impairment; Health care costs. Injury

• Source: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)

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Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

• Authors : Cicinelli, Maria Vittoria; Marchese, Alessandro; Bordato, Alessandro

Subjects: 0301 basic medicine; Best vitelliform disease; Fundus autofluorescence

• Source: Ophthalmol TherOphthalmology and Therapy, Vol 9, Iss 2, Pp 249-263 (2020)

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Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

• Authors : Muawyah D. Al-Bdour; Mohamed Tawalbeh; Hashim Mohammad

Subjects: Exome sequencing; Adult; Male

• Source: Mol Genet Genomic MedMolecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

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Elevated plasma complement factors in CRB1 -associated inherited retinal dystrophies /

• Authors : Moekotte, Lude; de Boer, Joke H.; Hiddingh, Sanne

Subjects: inherited retinal dystrophy; CRB1; proteomics

• Source: Investigative ophthalmology & visual science., Rockville : Association for Research in Vision and Ophthalmology (ARVO), 2025, vol. 66, iss. 2, art. no. 55, p. [1-11]. ; ISSN 1552-5783 ; eISSN

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Analysis of Molecular Genetic Testing Referrals for Inherited Retinal Dystrophies in a Quebec Tertiary Care Center Over a Decade

• Authors : Lachance A; Hébert M; Salesse C

Subjects: genetics; inherited retinal dystrophy; molecular genetic testing

• Source: Clinical Ophthalmology, Vol 16, Pp 239-244 (2022)

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