RIGON, CHIARA

RIGON, CHIARA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
Association study of AMH and AMHRII polymorphisms with unexplained infertility. 2010 RIGON, CHIARAANDRISANI, ALESSANDRAD'ANTONA, DONATOCOSMI, ERICHAMBROSINI, GUIDOCLEMENTI, MAURIZIO + FERTILITY AND STERILITY - -
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene 2020 Gallo, SamantaTrevisi, PatriziaRigon, ChiaraSeif Ali, DarioBovo, RobertoMartini, AlessandroCassina, Matteo + AUDIOLOGY & NEURO-OTOLOGY - -
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, UPiccolo, CRigon, CBrasson, VTrevisson, EMartini, ACassina, M + AUDIOLOGY RESEARCH - -
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report 2022 Rigon, ChiaraCassina, Matteo + THE ITALIAN JOURNAL OF PEDIATRICS - -
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature 2023 Sorrentino U.Rigon C.Cassina M. + GENES - -
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 2023 Rigon C.Salviati L. + EUROPEAN JOURNAL OF HUMAN GENETICS - -