TRUNZO, ROBERTA
TRUNZO, ROBERTA
Dipartimento di Medicina Clinica e Sperimentale
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE.
2012-01-01 Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, V.; De Girolamo, G.; Dimatteo, C.; Leccese, A.; Lillo, V.; Margaglione, Maurizio; Papadia, F.
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
2016-01-01 Trunzo, Roberta; Santacroce, Rosa; Shen, N; Jung Klawitter, S; Leccese, Angelica; DE GIROLAMO, Giuseppe; Margaglione, Maurizio; Blau, N.
Molecular analysis and genotype-phenotype correlation in patients affected by hyperphenylalaninemias in southern italy
2016-01-01 Trunzo, Roberta
Mutation analysis in hyperphenylalaninemia patients from South Italy.
2013-01-01 Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, V; De Girolamo, G; Dimatteo, C; Leccese, A; Lillo, V; Papadia, F; Margaglione, Maurizio
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes
2019-01-01 Bottigliero, D.; Monaco, I.; Santacroce, R.; Casavecchia, G.; Correale, M.; Guastafierro, F.; Leccese, A.; Cordisco, G.; Ieva, R.; Trunzo, R.; Di Biase, M.; Margaglione, M.; Brunetti, N. D.
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’
2014-01-01 Trunzo, Roberta; Santacroce, Rosa; Leccese, Angelica; Pansini, A; Mattia, G; Margaglione, Maurizio
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype
2015-01-01 Santacroce, Rosa; Trunzo, Roberta; Leccese, Angelica; Pansini, Angela; Gentile, Mattia; Margaglione, Maurizio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. | 1-gen-2012 | Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, V.; De Girolamo, G.; Dimatteo, C.; Leccese, A.; Lillo, V.; Margaglione, Maurizio; Papadia, F. | |
| In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU | 1-gen-2016 | Trunzo, Roberta; Santacroce, Rosa; Shen, N; Jung Klawitter, S; Leccese, Angelica; DE GIROLAMO, Giuseppe; Margaglione, Maurizio; Blau, N. | |
| Molecular analysis and genotype-phenotype correlation in patients affected by hyperphenylalaninemias in southern italy | 1-gen-2016 | Trunzo, Roberta | |
| Mutation analysis in hyperphenylalaninemia patients from South Italy. | 1-gen-2013 | Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, V; De Girolamo, G; Dimatteo, C; Leccese, A; Lillo, V; Papadia, F; Margaglione, Maurizio | |
| Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes | 1-gen-2019 | Bottigliero, D.; Monaco, I.; Santacroce, R.; Casavecchia, G.; Correale, M.; Guastafierro, F.; Leccese, A.; Cordisco, G.; Ieva, R.; Trunzo, R.; Di Biase, M.; Margaglione, M.; Brunetti, N. D. | |
| Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ | 1-gen-2014 | Trunzo, Roberta; Santacroce, Rosa; Leccese, Angelica; Pansini, A; Mattia, G; Margaglione, Maurizio | |
| The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype | 1-gen-2015 | Santacroce, Rosa; Trunzo, Roberta; Leccese, Angelica; Pansini, Angela; Gentile, Mattia; Margaglione, Maurizio |