Roberta Polli
University of Padua(IT)Città della Speranza Foundation(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy(2012)310 cited
- → Cx26 deafness: mutation analysis and clinical variability(1999)144 cited
- → AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission(2014)112 cited
- → Somatic mosaicism in von Hippel-Lindau disease(2000)74 cited
- → Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria(2009)72 cited
- → Characterization of intellectual disability and autism comorbidity through gene panel sequencing(2019)65 cited
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