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European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.Pageof 2