RIGON, CHIARA
RIGON, CHIARA
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
2014 Zanetti, Alessandra; Tomanin, Rosella; Rampazzo, Angelica; Rigon, Chiara; Gasparotto, Nicoletta; Cassina, Matteo; Clementi, Maurizio; Scarpa, Maurizio
Association study of AMH and AMHRII polymorphisms with unexplained infertility.
2010 Rigon, Chiara; Andrisani, Alessandra; Forzan, M; D'Antona, Donato; Bruson, A; Cosmi, Erich; Ambrosini, Guido; Tiboni, Gm; Clementi, Maurizio
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
Caratterizzazione molecolare mediante array-CGH e origine parentale di anomalie cromosomiche strutturali in pazienti con ritardo mentale/psicomotorio/autismo e/o anomalie comportamentali
2011 Rigon, C.
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
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
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.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
2023 Fortugno, P.; Monetta, R.; Cinquina, V.; Rigon, C.; Boaretto, F.; De Luca, C.; Zoppi, N.; Di Leandro, L.; De Domenico, E.; Di Daniele, A.; Ippoliti, R.; Angelucci, F.; Di Cesare, E.; De Paulis, R.; Salviati, L.; Colombi, M.; Brancati, F.; Ritelli, M.