All papers authored by Giorgia Mandrile
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2024
Stefano Giuseppe Caraffi 
,
Liselot van der Laan ,
Kathleen Rooney ,
Slavica Trajkova,
Roberta Zuntini,
Raissa Relator,
Sadegheh Haghshenas,
Michael A. Levy,
Chiara Baldo,
Giorgia Mandrile ,
Carolyn Lauzon,
Duccio Maria Cordelli,
Ivan Ivanovski,
Anna Fetta ,
Elena Sukarova
and 9 other authors
,
Liselot van der Laan ,
Kathleen Rooney ,
Slavica Trajkova,
Roberta Zuntini,
Raissa Relator,
Sadegheh Haghshenas,
Michael A. Levy,
Chiara Baldo,
Giorgia Mandrile ,
Carolyn Lauzon,
Duccio Maria Cordelli,
Ivan Ivanovski,
Anna Fetta ,
Elena Sukarova
and 9 other authors
Identification of the DNA methylation signature of Mowat-Wilson syndrome
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2022
Giorgia Mandrile ,
Susanna Barella,
Antonino Giambona ,
Antonia Gigante,
Michela Grosso ,
Silverio Perrotta ,
Saverio Scianguetta,
Gian Luca Forni
Download from doi.org
,
Susanna Barella,
Antonino Giambona ,
Antonia Gigante,
Michela Grosso ,
Silverio Perrotta ,
Saverio Scianguetta,
Gian Luca Forni
Download from doi.org
2017
Ryan L. Collins ,
Harrison Brand,
Claire E. Redin,
Carrie Hanscom,
Caroline Antolik,
Matthew R. Stone,
Joseph T. Glessner,
Tamara Mason,
Giulia Pregno,
Naghmeh Dorrani,
Giorgia Mandrile ,
Daniela Giachino,
Danielle Perrin,
Cole Walsh,
Michelle Cipicchio
and 15 other authors
Download from link.springer.com
,
Harrison Brand,
Claire E. Redin,
Carrie Hanscom,
Caroline Antolik,
Matthew R. Stone,
Joseph T. Glessner,
Tamara Mason,
Giulia Pregno,
Naghmeh Dorrani,
Giorgia Mandrile ,
Daniela Giachino,
Danielle Perrin,
Cole Walsh,
Michelle Cipicchio
and 15 other authors
Download from link.springer.com
2016
Claire Redin,
Harrison Brand,
Ryan L. Collins ,
Tammy Kammin,
Elyse Mitchell,
Jennelle C. Hodge,
Carrie Hanscom,
Vamsee Pillalamarri,
Catarina M. Seabra,
Mary-Alice Abbott,
Omar A. Abdul-Rahman,
Erika Aberg,
Rhett Adley,
Sofia L. Alcaraz-Estrada,
Fowzan S. Alkuraya
and 134 other authors
Download from www.nature.com
,
Tammy Kammin,
Elyse Mitchell,
Jennelle C. Hodge,
Carrie Hanscom,
Vamsee Pillalamarri,
Catarina M. Seabra,
Mary-Alice Abbott,
Omar A. Abdul-Rahman,
Erika Aberg,
Rhett Adley,
Sofia L. Alcaraz-Estrada,
Fowzan S. Alkuraya
and 134 other authors
Download from www.nature.com
Roberto Pagliarini,
Raffaele Castello,
Francesco Napolitano,
Roberta Borzone,
Patrizia Annunziata,
Giorgia Mandrile ,
Mario De Marchi,
Nicola Brunetti-Pierri,
Diego di Bernardo
Download from doi.org
,
Mario De Marchi,
Nicola Brunetti-Pierri,
Diego di Bernardo
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Alessandra Pelle,
Alessandra Cuccurullo,
Cecilia Mancini,
Regina Sebastiano,
Giovanni Stallone,
Susanna Negrisolo,
Elisa Benetti,
Licia Peruzzi,
Michele Petrarulo,
Mario De Marchi,
Martino Marangella,
Antonio Amoroso ,
Daniela Giachino,
Giorgia Mandrile
Download from link.springer.com
,
Daniela Giachino,
Giorgia Mandrile
Download from link.springer.com
Alessia Micalizzi,
Andrea Poretti,
Marta Romani,
Monia Ginevrino,
Tommaso Mazza,
Chiara Aiello,
Ginevra Zanni ,
Bastian Baumgartner,
Renato Borgatti,
Knut Brockmann,
Ana Camacho,
Gaetano Cantalupo ,
Martin Haeusler,
Christiane Hikel,
Andrea Klein
and 15 other authors
Download from www.nature.com
,
Bastian Baumgartner,
Renato Borgatti,
Knut Brockmann,
Ana Camacho,
Gaetano Cantalupo ,
Martin Haeusler,
Christiane Hikel,
Andrea Klein
and 15 other authors
Download from www.nature.com
2015
Giorgia Mandrile ,
Eleonora Di Gregorio,
Himanshu Goel,
Daniela Giachino,
Stefania De Mercanti,
Marco Iudicello,
Marco Rolando,
Sabrina Losa,
Mario De Marchi,
Alfredo Brusco
Download from iris.unito.it
,
Eleonora Di Gregorio,
Himanshu Goel,
Daniela Giachino,
Stefania De Mercanti,
Marco Iudicello,
Marco Rolando,
Sabrina Losa,
Mario De Marchi,
Alfredo Brusco
Download from iris.unito.it
2014
Eleonora Di Gregorio,
Elisa Savin,
Elisa Biamino,
Elga Fabia Belligni,
Valeria Giorgia Naretto,
Gaetana D'Alessandro,
Gaetana D’Alessandro,
Giorgia Gai,
Franco Fiocchi,
Alessandro Calcia,
Cecilia Mancini,
Elisa Giorgio,
Simona Cavalieri,
Flavia Talarico,
Patrizia Pappi
and 10 other authors
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
Download from link.springer.com
Giorgia Mandrile ,
Christiaan S. van Woerden,
Paola Berchialla,
Bodo B. Beck,
Cécile Acquaviva Bourdain,
Cécile Acquaviva Bourdain,
Sally-Anne Hulton,
Gill Rumsby
Download from www.researchgate.net
,
Christiaan S. van Woerden,
Paola Berchialla,
Bodo B. Beck,
Cécile Acquaviva Bourdain,
Cécile Acquaviva Bourdain,
Sally-Anne Hulton,
Gill Rumsby
Download from www.researchgate.net
Riccardo Montioli,
Carla Borri Voltattorni,
Alessandro Roncador,
Elisa Oppici,
Giorgia Mandrile ,
Daniela Francesca Giachino,
Barbara Cellini,
C. Borri Voltattorni
Download from academic.oup.com
,
Daniela Francesca Giachino,
Barbara Cellini,
C. Borri Voltattorni
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Iolanda Borelli,
Guido C. Casalis Cavalchini,
Serena Del Peschio,
Monica Micheletti,
Tiziana Venesio,
Ivana Sarotto,
Anna Allavena,
Luisa Delsedime,
Marco A. Barberis,
Giorgia Mandrile ,
Paola Berchialla,
Paola Ogliara,
Cecilia Bracco,
Barbara Pasini
Download from www.researchgate.net
,
Paola Berchialla,
Paola Ogliara,
Cecilia Bracco,
Barbara Pasini
Download from www.researchgate.net
Giorgia Mandrile ,
Gian Nicola Gallus,
Giuseppe Mura,
Alessia Di Sapio,
Maria Alessandra Sotgiu,
Andrea Montella,
Daniela Francesca Giachino,
Maria Teresa Dotti,
Lucia Ulgheri,
Antonio Federico
,
Gian Nicola Gallus,
Giuseppe Mura,
Alessia Di Sapio,
Maria Alessandra Sotgiu,
Andrea Montella,
Daniela Francesca Giachino,
Maria Teresa Dotti,
Lucia Ulgheri,
Antonio Federico
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia
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2013
Giorgia Mandrile ,
Anna Dubois,
Jodi D. Hoffman,
Vera Uliana,
Emilio Di Maria ,
Michela Malacarne,
Domenico Coviello ,
Francesca Faravelli,
Simon Zwolinski,
Stephen Hellens,
Michael Wright,
Francesca Forzano
,
Anna Dubois,
Jodi D. Hoffman,
Vera Uliana,
Emilio Di Maria ,
Michela Malacarne,
Domenico Coviello ,
Francesca Faravelli,
Simon Zwolinski,
Stephen Hellens,
Michael Wright,
Francesca Forzano
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
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Pierre Cochat,
Sally-Anne Hulton,
Cecile Acquaviva,
Christopher J. Danpure,
Michel Daudon,
Mario De Marchi,
Sonia Fargue,
Jaap Groothoff,
Jerome Harambat,
Bernd Hoppe,
Neville Jamieson,
Markus J. Kemper,
Giorgia Mandrile ,
Martino Marangella,
Stefano Picca
and 6 other authors
,
Martino Marangella,
Stefano Picca
and 6 other authors
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
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2011
Lorena Mosca,
Raffaella Marazzi,
Alfonso Ciccone,
Ignazio Santilli,
Anna Bersano,
Valeria Sansone,
Enrico Grosso,
Giorgia Mandrile ,
Daniela Francesca Giachino,
Laura Adobbati,
Elisabetta Corengia,
Elio Agostoni,
Anna Fiumani,
Salvatore Gallone,
Elio Scarpini
and 5 other authors
,
Daniela Francesca Giachino,
Laura Adobbati,
Elisabetta Corengia,
Elio Agostoni,
Anna Fiumani,
Salvatore Gallone,
Elio Scarpini
and 5 other authors
NOTCH3 gene mutations in subjects clinically suspected of CADASIL
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