Limongelli, Ivan : rechercher sur Z-Library

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1

Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective

Dagliati, Arianna, Tibollo, Valentina, Sacchi, Lucia, Malovini, Alberto, Limongelli, Ivan, Gabetta, Matteo, Napolitano, Carlo, Mazzanti, Andrea, De Cata, Pasquale, Chiovato, Luca, Priori, Silvia, Bell

Journal:

Frontiers in Digital Humanities

Année:

2018

Langue:

english

Fichier:

PDF, 710 KB

english, 2018

2

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Bayindir, Baran, Piazza, Elena, Della Mina, Erika, Limongelli, Ivan, Brustia, Francesca, Ciccone, Roberto, Veggiotti, Pierangelo, Zuffardi, Orsetta, Dehghani, Mohammed Reza

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2013

3

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valent

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.11 MB

english, 2015

4

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez,

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2015

5

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

Vetro, Annalisa, Iascone, Maria, Limongelli, Ivan, Ameziane, Najim, Gana, Simone, Mina, Erika Della, Giussani, Ursula, Ciccone, Roberto, Forlino, Antonella, Pezzoli, Laura, Rooimans, Martin A., van Es

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 794 KB

english, 2015

6

A kinetic model-based algorithm to classify NGS short reads by their allele origin

Marinoni, Andrea, Rizzo, Ettore, Limongelli, Ivan, Gamba, Paolo, Bellazzi, Riccardo

Journal:

Journal of Biomedical Informatics

Année:

2015

Langue:

english

Fichier:

PDF, 782 KB

english, 2015

7

PaPI: pseudo amino acid composition to score human protein-coding variants

Limongelli, Ivan, Marini, Simone, Bellazzi, Riccardo

Journal:

BMC Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 1.91 MB

english, 2015

8

A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events

Decio, Alice, Tonduti, Davide, Pichiecchio, Anna, Vetro, Annalisa, Ciccone, Roberto, Limongelli, Ivan, Giorda, Roberto, Caffi, Lorella, Balottin, Umberto, Zuffardi, Orsetta, Orcesi, Simona

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2015

9

[IEEE 2014 IEEE International Conference on Healthcare Informatics (ICHI) - Verona, Italy (2014.9.15-2014.9.17)] 2014 IEEE International Conference on Healthcare Informatics - Kimimila: A New Model to Classify NGS Short Reads by Their Allele Origin

Marinoni, Andrea, Rizzo, Ettore, Gamba, Paolo, Bellazzi, Riccardo, Limongelli, Ivan

Année:

2014

Langue:

english

Fichier:

PDF, 162 KB

english, 2014

10

BigQ: a NoSQL based framework to handle genomic variants in i2b2

Gabetta, Matteo, Limongelli, Ivan, Rizzo, Ettore, Riva, Alberto, Segagni, Daniele, Bellazzi, Riccardo

Journal:

BMC Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2015

11

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Vetro, Annalisa, Savasta, Salvatore, Russo Raucci, Annalisa, Cerqua, Cristina, Sartori, Geppo, Limongelli, Ivan, Forlino, Antonella, Maruelli, Silvia, Perucca, Paola, Vergani, Debora, Mazzini, Giulian

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2017

12

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Vetro, Annalisa, Godin, Didier, Lesende, Ivan, Limongelli, Ivan, Ranzani, Guglielmina Nadia, Novara, Francesca, Bonaglia, Maria Clara, Rinaldi, Berardo, Franchi, Fabrizia, Manolakos, Emmanouil, Lonard

Journal:

Clinical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2017

13

A Data Fusion Approach to Enhance Association Study in Epilepsy

Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Malovini, Alberto, Errichiello, Edoardo, Vetro, Annalisa, Da, Tan, Zuffardi, Orsetta, Bellazzi, Riccardo, Russo, Emilio

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

14

CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases

Nicora, Giovanna, Limongelli, Ivan, Gambelli, Patrick, Memmi, Mirella, Malovini, Alberto, Mazzanti, Andrea, Napolitano, Carlo, Priori, Silvia, Bellazzi, Riccardo

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2018