ROBUSTO, MICHELA

ROBUSTO, MICHELA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

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Risultati 1 - 16 di 16 (tempo di esecuzione: 0.003 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 1-ott-2011 M. RobustoR. AsseltaA. CesaraniU. AmbrosettiS. DugaG. Soldà + Conference Object -
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 1-gen-2011 G.M. SoldàM. RobustoR. AsseltaU. AmbrosettiS. Duga + Conference Object -
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 1-nov-2011 M. RobustoG. SoldàA. CesaraniU. AmbrosettiR. AsseltaS. Duga + Conference Object -
Congenital fibrinogen deficiency in Pakistan and identification of five novel mutations 1-giu-2014 M. RobustoF. Peyvandi + Article (author) -
Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population 1-giu-2012 M. RobustoR. AsseltaS. CacciaU. AmbrosettiS. DugaG. Soldà + Conference Object -
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 1-gen-2016 S. CacciaM. RobustoU. Ambrosetti + Article (author) -
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module 1-ago-2015 R. AsseltaM. RobustoF. PeyvandiS. CacciaS. Duga + Article (author) -
Identification by exome capture and sequencing of two novel mutations in the PRPS1 gene in Italian families with nonsyndromic sensorineural hearing loss 1-nov-2011 M. RobustoG. SoldàR. AsseltaU. AmbrosettiS. Duga + Conference Object -
Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1 1-ott-2012 M. RobustoR. AsseltaS. CacciaU. AmbrosettiS. DugaG. Soldà + Conference Object -
Identification by whole-exome sequencing of two novel LARS2 mutations in an Italian family with Perrault syndrome 1-giu-2014 G. SoldàM. RobustoU. AmbrosettiR. AsseltaS. Duga + Conference Object -
Identification of novel deafness-causing variants in the tmprss3 gene by whole-exome sequencing 1-nov-2012 M. RobustoR. AsseltaA. GhilardiU. AmbrosettiL. Del GiaccoS. CacciaS. DugaG. Soldà + Conference Object -
Identification of novel NSHL-causing mutations by whole exome sequencing 1-giu-2014 M. RobustoR. AsseltaS. CacciaU. AmbrosettiS. DugaG. Soldà + Conference Object -
INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE 24-gen-2014 M. Robusto Doctoral Thesis -
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 1-gen-2013 M. RobustoP. BraidottiF. PeyvandiR. AsseltaS. Duga + Article (author) -
Search for novel deafness genes by exome sequencing of autosomal recessive NSHL families 1-gen-2011 G.M. SoldàR. AsseltaM. RobustoU. AmbrosettiS. Duga + Conference Object -
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa 10-feb-2021 M. RobustoL. MauriU. AmbrosettiS. DugaR. Asselta + Article (author) -