<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017 · Journal of Medical Genetics · 249 citations
https://doi.org/10.1136/jmedgenet-2016-104509
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Carolina Courage
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Carolina Courage is an academic researcher from University of Helsinki. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases. The author has an h-index of 16, co-authored 29 publications.
Papers by this author
worksDelineating the <i>GRIN1</i> phenotypic spectrum
2016 · Neurology · 202 citations
https://doi.org/10.1212/wnl.0000000000002740
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations
2018 · Epilepsia · 147 citations
https://doi.org/10.1111/epi.13986
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
2024 · The American Journal of Human Genetics · 16 citations
https://doi.org/10.1016/j.ajhg.2024.06.008
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2
2025 · Neuropediatrics · 4 citations
https://doi.org/10.1055/a-2510-5592
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