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Your search keyword '"Bergen AA"' showing total 7 results

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7 results on '"Bergen AA"'

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1. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

2. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

3. Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

4. Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration.

5. Ultrastructural localization and expression of TRPM1 in the human retina.

6. Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.

7. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

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