Sfoglia per Autore
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
2023 Toldo, I; Brunello, F; Cavasin, P; Nosadini, M; Sartori, S; Frigo, Ac; Mai, R; Pelliccia, V; Mancardi, Mm; Striano, P; Severino, M; Zara, F; Rizzi, R; Casellato, S; Di Rosa, G; Mastrangelo, M; Spalice, A; Budetta, M; De Palma, L; Guerrini, R; Pruna, D; Cordelli, Dm; Sofia, V; Papa, A; Chiesa, V; Ragona, F; Parisi, P; D'Aniello, A; Veggiotti, P; Dainese, F; Giordano, L; Licchetta, L; Tinuper, P; D'Orsi, G; Cassina, M; Manara, R.
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
2023 Sorrentino, Ugo; Agosto, Caterina; Benini, Franca; Bertolin, Cinzia; Cassina, Matteo; Bonadies, Luca; Caroppo, Francesca; Fortina, Anna Belloni; Salviati, Leonardo
Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS)
2023 Onken, Marlies; Lohse, Lukas; Coulm, Bénédicte; Beghin, Delphine; Richardson, Jonathan L; Bermejo-Sánchez, Eva; Aguilera, Cristina; Bosch, Montserrat; Cassina, Matteo; Chouchana, Laurent; De Santis, Marco; Duman, Mine Kadioglu; Gören, M Zafer; Johnson, Diana; Bera, Annie Pierre Jonville; Kaplan, Yusuf C; Kennedy, Debra; Kwok, Susan; Lacroix, Isabelle; Lepelley, Marion; Pistelli, Alessandra; Schaefer, Christof; Te Winkel, Bernke; Uysal, Nusret; Winterfeld, Ursula; Yakuwa, Naho; Diav-Citrin, Orna; Vial, Thierry; Dathe, Katarina
Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up
2023 Mattiucci, Alessandra; Girolomoni, Giampiero; Cassina, Matteo; Zoller, Thomas; Antoniazzi, Franco; Schena, Donatella
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
2023 Sorrentino, U.; Gabbiato, I.; Canciani, C.; Calosci, D.; Rigon, C.; Zuccarello, D.; Cassina, M.
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
2023 Toldo, Irene; Brunello, Francesco; Cavasin, Paola; Nosadini, Margherita; Sartori, Stefano; Frigo, ANNA CHIARA; Mai, Roberto; Pelliccia, Veronica; Margherita Mancardi, Maria; Striano, Pasquale; Severino, Marisavina; Zara, Federico; Rizzi, Romana; Casellato, Susanna; Di Rosa, Gabriella; Mastrangelo, Mario; Spalice, Alberto; Budetta, Mauro; De Palma, Luca; Guerrini, Renzo; Pruna, Dario; Maria Cordelli, Duccio; Sofia, Vito; Papa, Amanda; Chiesa, Valentina; Ragona, Francesca; Parisi, Pasquale; D'Aniello, Alfredo; Veggiotti, Pierangelo; Dainese Lucio Giordano, Filippo; Licchetta, Laura; Tinuper, Paolo; D'Orsi, Giuseppe; Cassina, Matteo; Manara, Renzo
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
2023 Salerno, Annalisa; Zanin, Anna; Cassina, Matteo; Benini, Franca
Epigenetics of pregnancy: looking beyond the DNA code
2022 Zuccarello, D.; Sorrentino, U.; Brasson, V.; Marin, L.; Piccolo, C.; Capalbo, A.; Andrisani, A.; Cassina, M.
The risk of questioning the safety of drugs considered safe in pregnancy at the era of big data: the everlasting case of doxylamine
2022 Panchaud, Alice; Cleary, Brian; Weber-Schoendorfer, Corinna; Shechtman, Svetlana; Cassina, Matteo; Diav-Citrin, Orna; Damkier, Per
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
2022 Cacciatori, Elena; Aleo, Sebastiano; Scuvera, Giulietta; Rigon, Chiara; Marchisio, Paola Giovanna; Cassina, Matteo; Milani, Donatella
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants
2021 Morbidoni, V.; Baschiera, E.; Forzan, M.; Fumini, V.; Ali, D. S.; Giorgi, G.; Buson, L.; Desbats, M. A.; Cassina, M.; Clementi, M.; Salviati, L.; Trevisson, E.
Handle with care — interpretation, synthesis and dissemination of data on paracetamol in pregnancy
2021 Damkier, P.; Cleary, B.; Weber-Schoendorfer, C.; Shechtman, S.; Cassina, M.; Panchaud, A.; Diav-Cirtin, O.
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations
2021 Anglani, Franca; Salviati, Leonardo; Cassina, Matteo; Rigato, Matteo; Gobbi, Laura; Calo', Lorenzo
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
2021 Sorrentino, U; Piccolo, C; Rigon, C; Brasson, V; Trevisson, E; Boaretto, F; Martini, A; Cassina, M
Craniosynostosis is a feature of CHD7-related CHARGE syndrome
2021 De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F.
Ondansetron should never be used in pregnancy: Against: Ondansetron in pregnancy revisited
2021 Damkier, P.; Kaplan, Y. C.; Shechtman, S.; Diav-Citrin, O.; Cassina, M.; Weber-Schoendorfer, C.; Cleary, B.; Hodson, K.
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene
2020 Gallo, Samanta; Trevisi, Patrizia; Rigon, Chiara; Caserta, Ezio; Seif Ali, Dario; Bovo, Roberto; Martini, Alessandro; Cassina, Matteo
Ondansetron in pregnancy revisited: Assessment and pregnancy labelling by the European Medicines Agency (EMA) & Pharmacovigilance Risk Assessment Committee (PRAC)
2020 Damkier, Per; Kaplan, Yusuf Cem; Shechtman, Svetlana; Diav-Citrin, Orna; Cassina, Matteo; Weber-Schoendorfer, Corinna
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