<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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Judith D. Ranells
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Judith D. Ranells is an academic researcher from University of South Florida. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 13, co-authored 20 publications.
ORCID: 0000-0002-3682-1623Papers by this author
worksGATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
2020 · Genetics in Medicine · 33 citations
https://doi.org/10.1038/s41436-019-0747-z
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
2024 · Genetics in Medicine · 0 citations
https://doi.org/10.1016/j.gim.2024.101326
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