Licia Turolla

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

Developmental Biology, Biochemistry, Brain Development +7

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 98 citations · Full text

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

Maurizio Clementi, Guido Barbujani, Licia Turolla et al. · Human Genetics · 1990 · 88 citations

Neuro-oncology, Somatic Variant, Mendelian Disorder +8

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

Francesca Romana Grati, Licia Turolla, Patrizia D’Ajello et al. · Journal of Medical Genetics · 2007 · 87 citations · Full text

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini et al. · Human Mutation · 2019 · 64 citations · Full text

Genome-wide Association Study, Intellectual Impairment, Functional Genomics +15