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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 42021 Scientific Reports article Biochemistry, Genetics and Molecular Biology melanin and skin pigmentation Open access
Charlotte C. Kruijt, Nicoline Elisabeth Schalij-Delfos, Gerard C. de Wit, Ralph J. Florijn, Maria M. van Genderen
15citations -
Locus coeruleus pathology is associated with cerebral microangiopathy at autopsy2023 Alzheimer s & Dementia article Medicine Intracerebral and Subarachnoid Hemorrhage Research Open access
Whitney M. Freeze, Susanne J. van Veluw, Willemijn J. Jansen, David Alan Bennett, Heidi I.L. Jacobs
9citations -
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences2022 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Libe Gradstein, Arthur A B Bergen, Ralph J. Florijn, Benoı̂t Arveiler, Eulalie Lasseaux, +10 more
26citations -
Clinical and mutational characteristics of oculocutaneous albinism type 72024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Gerard C. de Wit, Helena Maria van Minderhout, Nicoline Elisabeth Schalij-Delfos, Maria M. van Genderen
7citations -
MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES2023 Retinal Cases & Brief Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Francesco Romano, Elisa Cozzi, Camiel J. F. Boon, Giovanni Staurenghi, Anna Paola Salvetti
4citations
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