Vanna Pecile
Trieste, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 31 publications
Retrospective study 2005-2015 of all cases of fetal death occurred at ≥23 gestational weeks, in Friuli Venezia Giulia, Italy.
Journal: BMC pregnancy and childbirth
Published: November 14, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Journal: Molecular genetics & genomic medicine
Published: July 25, 2019
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Journal: Journal of human genetics
Published: May 02, 2019
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.
Journal: Molecular genetics & genomic medicine
Published: September 27, 2018
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
Journal: Epigenetics
Published: September 18, 2018
De novo unbalanced translocations have a complex history/aetiology.
Journal: Human genetics
Published: August 14, 2018
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Journal: European journal of medical genetics
Published: August 03, 2018
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Journal: Frontiers in genetics
Published: May 03, 2018
Fetal RHD detection from circulating cell-free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA.
Journal: Transfusion medicine (Oxford, England)
Published: March 30, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Journal: International journal of molecular sciences
Published: February 28, 2018
Last Updated: 09/26/2026