Results
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ADA2 deficiency due to a novel structural variation in 22q11.1. [electronic resource] by
- Grossi, Alice
- Cusano, Roberto
- Rusmini, Marta
- Penco, Federica
- Schena, Francesca
- Podda, Rosa A
- Caorsi, Roberta
- Gattorno, Marco
- Uva, Paolo
- Ceccherini, Isabella
Producer: 20200805
In:
Clinical genetics vol. 95
Availability: No items available.
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Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients. [electronic resource] by
- Griseri, Paola
- Garrone, Ornella
- Lo Sardo, Alessandra
- Monteverde, Martino
- Rusmini, Marta
- Tonissi, Federica
- Merlano, Marco
- Bruzzi, Paolo
- Lo Nigro, Cristiana
- Ceccherini, Isabella
Producer: 20180112
In:
Oncotarget vol. 7
Availability: No items available.
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ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. [electronic resource] by
- Bertamino, Marta
- Severino, Mariasavina
- Grossi, Alice
- Rusmini, Marta
- Tortora, Domenico
- Gandolfo, Carlo
- Pederzoli, Silvia
- Malattia, Clara
- Picco, Paolo
- Striano, Pasquale
- Ceccherini, Isabella
- Di Rocco, Maja
Producer: 20180925
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22
Availability: No items available.
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Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases. [electronic resource] by
- Marzano, Angelo V
- Ceccherini, Isabella
- Gattorno, Marco
- Fanoni, Daniele
- Caroli, Francesco
- Rusmini, Marta
- Grossi, Alice
- De Simone, Clara
- Borghi, Orietta M
- Meroni, Pier Luigi
- Crosti, Carlo
- Cugno, Massimo
Producer: 20150223
In:
Medicine vol. 93
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Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease. [electronic resource] by
- Matera, Ivana
- Musso, Marco
- Griseri, Paola
- Rusmini, Marta
- Di Duca, Marco
- So, Man-Ting
- Mavilio, Domenico
- Miao, Xiaoping
- Tam, Paul Hk
- Ravazzolo, Roberto
- Ceccherini, Isabella
- Garcia-Barcelo, Merce
Producer: 20130930
In:
Human mutation vol. 34
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Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform. [electronic resource] by
- Vanni, Irene
- Coco, Simona
- Truini, Anna
- Rusmini, Marta
- Dal Bello, Maria Giovanna
- Alama, Angela
- Banelli, Barbara
- Mora, Marco
- Rijavec, Erika
- Barletta, Giulia
- Genova, Carlo
- Biello, Federica
- Maggioni, Claudia
- Grossi, Francesco
Producer: 20160920
In:
International journal of molecular sciences vol. 16
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CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. [electronic resource] by
- Caorsi, Roberta
- Rusmini, Marta
- Volpi, Stefano
- Chiesa, Sabrina
- Pastorino, Claudia
- Sementa, Angela Rita
- Uva, Paolo
- Grossi, Alice
- Lanino, Edoardo
- Faraci, Maura
- Minoia, Francesca
- Signa, Sara
- Picco, Paolo
- Martini, Alberto
- Ceccherini, Isabella
- Gattorno, Marco
Publication details: Frontiers in immunology 2017
In:
Frontiers in immunology vol. 8
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers. [electronic resource] by
- Papa, Riccardo
- Rusmini, Marta
- Volpi, Stefano
- Caorsi, Roberta
- Picco, Paolo
- Grossi, Alice
- Caroli, Francesco
- Bovis, Francesca
- Musso, Valeria
- Obici, Laura
- Castana, Cinzia
- Ravelli, Angelo
- Van Gijn, Marielle E
- Ceccherini, Isabella
- Gattorno, Marco
Publication details: Rheumatology (Oxford, England) 02 2020
In:
Rheumatology (Oxford, England) vol. 59
Availability: No items available.
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10.
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers. [electronic resource] by
- Papa, Riccardo
- Rusmini, Marta
- Volpi, Stefano
- Caorsi, Roberta
- Picco, Paolo
- Grossi, Alice
- Caroli, Francesco
- Bovis, Francesca
- Musso, Valeria
- Obici, Laura
- Castana, Cinzia
- Ravelli, Angelo
- Van Gijn, Marielle E
- Ceccherini, Isabella
- Gattorno, Marco
Producer: 20200622
In:
Rheumatology (Oxford, England) vol. 59
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Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. [electronic resource] by
- Rusmini, Marta
- Griseri, Paola
- Lantieri, Francesca
- Matera, Ivana
- Hudspeth, Kelly L
- Roberto, Alessandra
- Mikulak, Joanna
- Avanzini, Stefano
- Rossi, Valentina
- Mattioli, Girolamo
- Jasonni, Vincenzo
- Ravazzolo, Roberto
- Pavan, William J
- Pini-Prato, Alessio
- Ceccherini, Isabella
- Mavilio, Domenico
Producer: 20130927
In:
PloS one vol. 8
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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. [electronic resource] by
- Rusmini, Marta
- Federici, Silvia
- Caroli, Francesco
- Grossi, Alice
- Baldi, Maurizia
- Obici, Laura
- Insalaco, Antonella
- Tommasini, Alberto
- Caorsi, Roberta
- Gallo, Eleonora
- Olivieri, Alma Nunzia
- Marzano, AngeloValerio
- Coviello, Domenico
- Ravazzolo, Roberto
- Martini, Alberto
- Gattorno, Marco
- Ceccherini, Isabella
Producer: 20170606
In:
Annals of the rheumatic diseases vol. 75
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Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. [electronic resource] by
- Matera, Ivana
- Rusmini, Marta
- Guo, Yiran
- Lerone, Margherita
- Li, Jiankang
- Zhang, Jianguo
- Di Duca, Marco
- Nozza, Paolo
- Mosconi, Manuela
- Pini Prato, Alessio
- Martucciello, Giuseppe
- Barabino, Arrigo
- Morandi, Francesco
- De Giorgio, Roberto
- Stanghellini, Vincenzo
- Ravazzolo, Roberto
- Devoto, Marcella
- Hakonarson, Hakon
- Ceccherini, Isabella
Producer: 20170724
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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