Works matching AU Taruscio, Domenica


Results: 101
    1

    Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe.

    Published in:
    2016
    By:
    • Angelis, Aris;
    • Kanavos, Panos;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Brodszky, Valentin;
    • Schulenburg, Johann;
    • Chevreul, Karine;
    • Persson, Ulf;
    • Fattore, Giovanni;
    • von der Schulenburg, Johann Matthias Graf;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    2

    Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe.

    Published in:
    2016
    By:
    • Chevreul, Karine;
    • Michel, Morgane;
    • Brigham, Karen;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Péntek, Márta;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Persson, Ulf;
    • Fattore, Giovani;
    • Brigham, Karen Berg;
    • von der Schulenburg, Johann Matthias Graf;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    3

    Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe.

    Published in:
    2016
    By:
    • Cavazza, Marianna;
    • Kodra, Yllka;
    • Armeni, Patrizio;
    • Santis, Marta;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Péntek, Márta;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Chevreul, Karine;
    • Persson, Ulf;
    • Fattore, Giovanni;
    • De Santis, Marta;
    • von der Schulenburg, Johann Matthias Graf
    Publication type:
    journal article
    4

    Social/economic costs and quality of life in patients with haemophilia in Europe.

    Published in:
    2016
    By:
    • Cavazza, Marianna;
    • Kodra, Yllka;
    • Armeni, Patrizio;
    • De Santis, Marta;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Gulácsi, László;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Chevreul, Karine;
    • Persson, Ulf;
    • Fattore, Giovanni;
    • von der Schulenburg, Johann Matthias Graf;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    5

    Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.

    Published in:
    2016
    By:
    • Chevreul, Karine;
    • Gandré, Coralie;
    • Brigham, Karen;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Gulácsi, László;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Persson, Ulf;
    • Fattore, Giovani;
    • Brigham, Karen Berg;
    • von der Schulenburg, Johann Matthias Graf;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    6

    Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe.

    Published in:
    2016
    By:
    • Péntek, Márta;
    • Gulácsi, László;
    • Brodszky, Valentin;
    • Baji, Petra;
    • Boncz, Imre;
    • Pogány, Gábor;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Taruscio, Domenica;
    • Iskrov, Georgi;
    • Schieppati, Arrigo;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Chevreul, Karine;
    • Persson, Ulf;
    • Fattore, Giovanni;
    • von der Schulenburg, Johann Matthias Graf
    Publication type:
    journal article
    7
    8

    Social/economic costs and health-related quality of life in patients with scleroderma in Europe.

    Published in:
    2016
    By:
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Kanavos, Panos;
    • Taruscio, Domenica;
    • Schieppati, Arrigo;
    • Iskrov, Georgi;
    • Péntek, Márta;
    • Delgado, Claudia;
    • Schulenburg, Johann;
    • Persson, Ulf;
    • Chevreul, Karine;
    • Fattore, Giovanni;
    • von der Schulenburg, Johann Mathias;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    9

    Social/economic costs and health-related quality of life in patients with histiocytosis in Europe.

    Published in:
    2016
    By:
    • Iskrov, Georgi;
    • Astigarraga, Itziar;
    • Stefanov, Rumen;
    • López-Bastida, Julio;
    • Linertová, Renata;
    • Oliva-Moreno, Juan;
    • Serrano-Aguilar, Pedro;
    • Posada-de-la-Paz, Manuel;
    • Schieppati, Arrigo;
    • Taruscio, Domenica;
    • Péntek, Márta;
    • Schulenburg, Johann;
    • Kanavos, Panos;
    • Chevreul, Karine;
    • Persson, Ulf;
    • Fattore, Giovanni;
    • von der Schulenburg, Johann Matthias Graf;
    • BURQOL-RD Research Network
    Publication type:
    journal article
    10

    Current trends in biobanking for rare diseases: a review.

    Published in:
    Journal of Biorepository Science for Applied Medicine, 2014, v. 2, p. 49, doi. 10.2147/BSAM.S46707
    By:
    • Graham, Caroline E.;
    • Molster, Caron;
    • Baynam, Gareth S.;
    • Bushby, Kate;
    • Hansson, Mats;
    • Kole, Anna;
    • Mora, Marina;
    • Monaco, Lucia;
    • Bellgard, Matthew;
    • Carpentieri, David;
    • Posada, Manuel;
    • Riess, Olaf;
    • Rubinstein, Yaffa R.;
    • Schaefer, Franz;
    • Taruscio, Domenica;
    • Terry, Sharon F.;
    • Zatloukal, Kurt;
    • Knoppers, Bartha;
    • Lochmüller, Hanns;
    • Dawkins, Hugh J. S.
    Publication type:
    Article
    11
    12
    13
    14

    Adapting the World Health Organization rapid Assistive Technology Assessment (rATA) to the Italian context: implementation of a TRAPD-based approach.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2022, v. 58, n. 2, p. 118, doi. 10.4415/ANN_22_02_07
    By:
    • Desideri, Lorenzo;
    • Magni, Riccardo;
    • Wei Zhang;
    • Guerreschi, Massimo;
    • Bitelli, Claudio;
    • Hoogerwerf, Evert-Jan;
    • Andraghetti, Paolo;
    • Vaccaro, Ketty;
    • Coletta, Vittoria;
    • Taruscio, Domenica;
    • De Santis, Marta;
    • Immacolata Romeo, Rosa;
    • Genisio, Margherita;
    • Daniele, Carla;
    • D'Avenio, Giuseppe;
    • Pirrera, Antonia;
    • Morelli, Sandra;
    • Giansanti, Daniele;
    • Meli, Paola;
    • Grigioni, Mauro
    Publication type:
    Article
    15
    16
    17
    18
    19
    20

    Preface.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2019, v. 55, n. 3, p. 2549, doi. 10.4415/ANN_19_03_09
    By:
    • Ferrelli, Rita Maria;
    • Fantini, Bernardino;
    • Taruscio, Domenica
    Publication type:
    Article
    21

    The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2018, v. 54, n. 2, p. 109, doi. 10.4415/ANN_18_02_06
    By:
    • de Stefano, Maria Chiara;
    • Floridia, Giovanna;
    • Censi, Federica;
    • Tosto, Fabrizio;
    • Salvatore, Marco;
    • Civolani, Alessandro;
    • Crescenzi, Barbara;
    • Giardino, Daniela;
    • Lenzini, Elisabetta;
    • Lisi, Ermanna;
    • Lonardo, Fortunato;
    • Mancini, Marco;
    • Novelli, Antonio;
    • Piombo, Giuseppe;
    • Stioui, Sabine;
    • Taruscio, Domenica
    Publication type:
    Article
    22
    23

    P4 Medicine versus Hippocrates.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 3, p. 185, doi. 10.4415/ANN_17_03_02
    By:
    • Pulciani, Simonetta;
    • Di Lonardo, Anna;
    • Fagnani, Corrado;
    • Taruscio, Domenica
    Publication type:
    Article
    24

    Sustainable public health systems for rare diseases.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 2, p. 170, doi. 10.4415/ANN_17_02_16
    By:
    • Ferrelli, Rita Maria;
    • Gentile, Amalia Egle;
    • De Santis, Marta;
    • Taruscio, Domenica
    Publication type:
    Article
    25
    26
    27
    28

    RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research.

    Published in:
    JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 780, doi. 10.1007/s11606-014-2908-8
    By:
    • Thompson, Rachel;
    • Johnston, Louise;
    • Taruscio, Domenica;
    • Monaco, Lucia;
    • Béroud, Christophe;
    • Gut, Ivo;
    • Hansson, Mats;
    • 't Hoen, Peter-Bram;
    • Patrinos, George;
    • Dawkins, Hugh;
    • Ensini, Monica;
    • Zatloukal, Kurt;
    • Koubi, David;
    • Heslop, Emma;
    • Paschall, Justin;
    • Posada, Manuel;
    • Robinson, Peter;
    • Bushby, Kate;
    • Lochmüller, Hanns
    Publication type:
    Article
    29
    30

    The need for worldwide policy and action plans for rare diseases.

    Published in:
    Acta Paediatrica, 2012, v. 101, n. 8, p. 805, doi. 10.1111/j.1651-2227.2012.02705.x
    By:
    • Forman, John;
    • Taruscio, Domenica;
    • Llera, Virginia A.;
    • Barrera, Luis A.;
    • Coté, Timothy R.;
    • Edfjäll, Catarina;
    • Gavhed, Désirée;
    • Haffner, Marlene E.;
    • Nishimura, Yukiko;
    • Posada, Manuel;
    • Tambuyzer, Erik;
    • Groft, Stephen C.;
    • Henter, Jan-Inge
    Publication type:
    Article
    31
    32
    33
    34
    35
    36
    37
    38
    39

    The Italian National Rare Diseases Registry.

    Published in:
    Blood Transfusion (17232007), 2014, v. 12, p. s606, doi. 10.2450/2014.0064-14s
    By:
    • Taruscio, Domenica;
    • Kodra, Yllka;
    • Ferrari, Gianluca;
    • Vittozzi, Luciano
    Publication type:
    Article
    40

    The social burden and quality of life of patients with haemophilia in Italy.

    Published in:
    Blood Transfusion (17232007), 2014, v. 12, p. s567, doi. 10.2450/2014.0042-14s
    By:
    • Kodra, Yllka;
    • Cavazza, Marianna;
    • Schieppati, Arrigo;
    • De Santis, Marta;
    • Armeni, Patrizio;
    • Arcieri, Romano;
    • Calizzani, Gabriele;
    • Fattore, Giovanni;
    • Manzoli, Lamberto;
    • Mantovani, Lorenzo;
    • Taruscio, Domenica
    Publication type:
    Article
    41

    The Italian National Centre for Rare Diseases: where research and public health translate into action.

    Published in:
    Blood Transfusion (17232007), 2014, v. 12, p. s591, doi. 10.2450/2014.0040-14s
    By:
    • Taruscio, Domenica;
    • Agresta, Linda;
    • Amato, Annalisa;
    • Bernardo, Giuseppe;
    • Braguti, Luana Bernardo Francesca;
    • Carbone, Pietro;
    • Carta, Claudio;
    • Ceccarini, Marina;
    • Censi, Federica;
    • Coppola, Simona;
    • Crialese, Patrizia;
    • De Santis, Marta;
    • Diemoz, Stefano;
    • Donati, Carlo;
    • Gainotti, Sabina;
    • Ferrari, Gianluca;
    • Floridia, Giovanna;
    • Frank, Claudio;
    • Frazzica, Rosa Giuseppa;
    • Gentile, Amalia E.
    Publication type:
    Article
    42
    43
    44
    45
    46
    47
    48

    Neurocutaneous syndromes in art and antiquities.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 224, doi. 10.1002/ajmg.c.31917
    By:
    • Ruggieri, Martino;
    • Gentile, Amalia Egle;
    • Ferrara, Vincenza;
    • Papi, Massimo;
    • Praticò, Andrea D.;
    • Mudry, Albert;
    • Taruscio, Domenica;
    • Micali, Giuseppe;
    • Polizzi, Agata
    Publication type:
    Article
    49
    50