Licia Turolla
Ca' Foncello Hospital(IT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics
Most-Cited Works
- → NANS-mediated synthesis of sialic acid is required for brain and skeletal development(2016)164 cited
- → Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients(2011)98 cited
- → Neurofibromatosis-1: a maximum likelihood estimation of mutation rate(1990)88 cited
- → Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome(2007)87 cited
- → Characterization of intellectual disability and autism comorbidity through gene panel sequencing(2019)65 cited
- → Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome(1991)57 cited
- → Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive births(1992)46 cited
- Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.(1996)
- → Three cases with de novo 6q imbalance and variable prenatal phenotype(2005)25 cited
- → Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome(2014)23 cited