Concepedia

Valentina Dessì

VD

Statistics

Publications

9

Citations

228

H-Index

9

Active since

2007

Affiliations

Ospedale Microcitemico(Current)

Institute of Genetic and Biomedical Research

University of Padua

University of Cagliari

University of Pisa

Valentina Dessì is an author at Ospedale Microcitemico specializing in molecular genetics, genetic disorders, and genetics.

Publications per year

2007–2014

9

Publications

9

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Antonietta Zappu, Magli Olympia, Maria Barbara Lepori et al. · Journal of Pediatric Gastroenterology and Nutrition · 2008 · 48 citations

, , +16

Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

Loredana Boccone, Stefano Mariotti, Valentina Dessì et al. · European Journal of Medical Genetics · 2010 · 41 citations

, , +8

Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin

Maria Barbara Lepori, Mario Lovicu, Valentina Dessì et al. · Genetic Testing · 2007 · 31 citations

, , +14

Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels

Loredana Boccone, Valentina Dessì, Antonella Meloni et al. · European Journal of Medical Genetics · 2013 · 28 citations

, , +7

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Maria-Barbara Lepori, Antonietta Zappu, Simona Incollu et al. · Molecular and Cellular Probes · 2012 · 23 citations

, , +15

1–5 of 9