Alessandra Murgia
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, Hearing, Cochlea, Tinnitus, Genetics
Most-Cited Works
- → GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study(2005)551 cited
- → A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment(2005)338 cited
- → 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
- → Spontaneous Partial Regression of Low-Grade Glioma in Children With Neurofibromatosis-1: A Real Possibility(1999)94 cited