Concepedia
Statistics
Publications
64
Citations
4.4K
H-Index
35
Active since
1993
Affiliations
University of Padua(Current)
Città della Speranza Foundation
Centro Andaluz de Biología del Desarrollo
Istituti di Ricovero e Cura a Carattere Scientifico
Universidad Pablo de Olavide
Eva Trevisson is an author at University of Padua specializing in medicine, genetics, and molecular genetics.
Top concepts
MedicineGeneticsPathologyMolecular GeneticsMolecular BiologyBiochemistryNatural SciencesRedox BiologyNeuropathologyPathogenesis
Publications per year
1993–2024
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Catarina M. Quinzii, Ali Naini, Leonardo Salviati et al. · The American Journal of Human Genetics · 2006 · 343 citations · Full text
Biosynthesis, Biochemistry, Natural Sciences +3
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text
LETM1, deleted in Wolf Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
Kai Stefan Dimmer, Francesca Navoni, Alberto Casarin et al. · Human Molecular Genetics · 2007 · 188 citations
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