Pubblicazioni

Inherited defects in the complement system

2022 - PEDIATRIC ALLERGY AND IMMUNOLOGY

Leonardi, Lucia; La Torre, Francesco; Soresina, Annarosa; Federici, Silvia; Cancrini, Caterina; Castagnoli, Riccardo; Cinicola, Bianca Laura; Corrente, Stefania; Giardino, Giuliana; Lougaris, Vassilios; Volpi, Stefano; Luigi Marseglia, Gian; Cardinale, Fabio

Distinct skin microbiome community structures in congenital ichthyosis

2022 - BRITISH JOURNAL OF DERMATOLOGY

Tham, K. -C.; Lefferdink, R.; Duan, K.; Lim, S. S.; Wong, X. F. C. C.; Ibler, E.; Wu, B.; Abu-Zayed, H.; Rangel, S. M.; Del Duca, E.; Chowdhury, M.; Chima, M.; Kim, H. J.; Lee, B.; Guttman-Yassky, E.; Paller, A. S.; Common, J. E. A.

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

2021 - THE ITALIAN JOURNAL OF PEDIATRICS

Martino, F.; Magenta, A.; Troccoli, M. L.; Martino, E.; Torromeo, C.; Putotto, C.; Barilla, F.

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

2019 - PARKINSONISM & RELATED DISORDERS

Galosi, S.; Barca, E.; Carrozzo, R.; Schirinzi, T.; Quinzii, C. M.; Lieto, M.; Vasco, G.; Zanni, G.; Di Nottia, M.; Galatolo, D.; Filla, A.; Bertini, E.; Santorelli, F. M.; Leuzzi, V.; Haas, R.; Hirano, M.; Friedman, J.

International forum. an investigation of iron status in blood donors

2017 - BLOOD TRANSFUSION

Vuk, Tomislav; Magnussen, Karin; De Kort, Wim; FollÃ©a, Gilles; Liumbruno, Giancarlo M; Schennach, Harald; Vandewalle, Giovani; Compernolle, Veerle; Masharova, Natalia; Karakatsiani, Georgia; Argyrou, Isabella; ÅehÃ¡Äek, VÃt; Khanirzajeva, Gulara; CastrÃ©n, Johanna; Danic, Bruno; Djoudi, Rachid; Woimant, GeneviÃ¨ve; Mueller, Markus M; Politis, Constantina; Vaglio, Stefania; Daugavvanaga, Anita; Vilutyte, Edita; Faber, Jean Claude; Borg Aquilina, Denise; Van Den Burg, Peter; Bokhorst, Arlinke; PogÅÃ³d, Ryszard; Antoniewicz Papis, Jolanta; Muon, Mario; Burta, Olivia L; RosochovÃ¡, Jana; Mali, Polonca; Vesga, Miguel A; Schneider, Karin; Norda, Rut; Anderson, Nicky

Polymers of Z Î±1-antitrypsin are secreted in cell models of disease

2016 - EUROPEAN RESPIRATORY JOURNAL

Fra, Annamaria; COSMI, FRANCESCA; OrdoÃ±ez, Adriana; Berardelli, Romina; Perez, Juan; GUADAGNO, NOEMI ANTONELLA; Corda, Luciano; Marciniak, Stefan J; Lomas, David A; MIRANDA BANOS, MARIA ELENA

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

2016 - BLOOD

Wlodarski, M. W.; Hirabayashi, S.; Pastor, V.; Stary, J.; Hasle, H.; Masetti, R.; Dworzak, M.; Schmugge, M.; Van Den Heuvel-Eibrink, M.; Ussowicz, M.; De Moerloose, B.; Catala, A.; Smith, O. P.; Sedlacek, P.; Lankester, A. C.; Zecca, M.; Bordon, V.; Matthes-Martin, S.; Abrahamsson, J.; Kuhl, J. S.; Sykora, K. -W.; Albert, M. H.; Przychodzien, B.; Maciejewski, J. P.; Schwarz, S.; Gohring, G.; Schlegelberger, B.; Cseh, A.; Noellke, P.; Yoshimi, A.; Locatelli, F.; Baumann, I.; Strahm, B.; Niemeyer, C. M.