Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to <i>ASPM</i> mutationsSandrine Passemard, Alain Verloès, Luigi Titomanlio et al.|Neurology|2009Cited by 104
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Alessandro De Luca, Claudia Santoro et al.|Genetics in Medicine|2024Cited by 6
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysisMartina Di Stasi, Andrea Elefante, Daniela Melis et al.|Acta Neurologica Belgica|2023Cited by 1