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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 -
An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.2021 Research Square preprint 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
0citations -
Reply to Correspondence to “Itch in patients with cutaneous T-cell lymphoma as a quality of life indicator”2022 JAAD International letter Medicine Cutaneous lymphoproliferative disorders research Open access
Rosanne Ottevanger, Sylvia van Beugen, Andrea W.M. Evers, Rein Willemze, Maarten H. Vermeer, Koen D. Quint
0citations -
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 -
obophenotype/human-phenotype-ontology: 2026-01-08 Release2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Peter Robinson, Nicole Vasilevsky, Sebastian Köhler, Nicolas Matentzoglu, Harshad, Chris J Mungall, +16 more
0citations -
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 -
Oculocutaneous albinism type 7: Overlap and differences with other types of non-syndromic albinism2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
CC Kruijt, GC de Wit, Helena Maria van Minderhout, NE Schalij‐Delfos, MM van Genderen
0citations -
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 -
monarch-initiative/mondo: v2026-07-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
0citations
18 results