Arianne Bouman

Lens membranes VI. Some characteristics of the EDTA-extractable protein (EEP) from bovine lens fiber membranes

Arianne Bouman, A.L.M. de Leeuw, E. F. J. Tolhuizen et al. · Experimental Eye Research · 1979 · 25 citations

Ophthalmology, Biochemistry, Edta-extractable Protein +7

Lens membranes. XII. Age-related changes in polypeptide composition of bovine lens fiber membranes

Arianne Bouman, A.L.M. de Leeuw, R.M. Broekhuyse · Experimental Eye Research · 1980 · 17 citations

Membrane Formation, Ophthalmology, Biochemistry +7

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

Pauline Burger, Florent Colin, Axelle Strehle et al. · Journal of Neural Transmission · 2022 · 17 citations · Full text

Neurodevelopmental Disorders, International Participatory Database, Medicine +10

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots, Sanaa Choufani, Víctor Faúndes et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Allelic Variant, Engineering, Genotype-phenotype Associations +12