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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment 1-gen-2019 Brumat M.Cocca M.Vuckovic D.Gasparini P.Girotto G. +
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels 1-gen-2019 Noce D.Horn K.Brumat M.Campana E.Catamo E.Ciullo M.Concas M. P.Gasparini P.Girotto G.La Bianca M.Liu J.Magi R.Martin N. G.Pirastu N.Pistis G.Robino A.Ruggiero D.Salvi E.Schmidt H.Teren A. +
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution 1-gen-2019 Easton, Douglas F.Gandin, IlariaGasparini, PaoloGirotto, GiorgiaMorgan, AnnaRobino, AntoniettaVuckovic, Dragana +
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci 1-gen-2020 Winkler T.Chen X.Girotto G.Li X.Brumat M.Cocca M.Li Y.Wang L.Zhao W.Gasparini P. +
SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans 1-gen-2020 Morgan A.Girotto G. +
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 1-gen-2020 Morgan A.Spedicati B.Graziano C.Faletra F.Girotto G. +
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 1-gen-2020 Faletra F.Morgan A.Girotto G. +
Molecular testing for the study of non-syndromic hearing loss 1-gen-2020 Morgan A.Gasparini P.Girotto G.
Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity 1-gen-2020 Robino A.Girotto G.Gasparini P. +
Functional analysis of candidate genes from genome-wide association studies of hearing 1-gen-2020 Girotto G. +
A bird’s-eye view of Italian genomic variation through whole-genome sequencing 1-gen-2020 Robino A.Brumat M.Gandin I.Girotto G.Gasparini P.Mezzavilla M. +
New age-related hearing loss candidate genes in humans: an ongoing challenge 1-gen-2020 Di Stazio M.Morgan A.Brumat M.Bassani S.Gasparini P.Girotto G. +
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation 1-gen-2021 Beatrice SpedicatiAnna MorganFlavio FaletraAgnese FeresinPaolo GaspariniGiorgia Girotto +
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color 1-gen-2021 Zhu G.Girotto G.Catamo E.Concas M. P.Brumat M.Gasparini P.Cocca M.Robino A. +
Pendred syndrome, or not pendred syndrome? That is the question 1-gen-2021 Tesolin P.Lenarduzzi S.Rubinato E.Morgan A.Girotto G. +
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour 1-gen-2021 Cocca M.Concas M. P.Girotto G.Morgan A. +
Benefit of cochlear implantation in a patient with Myhre syndrome 1-gen-2021 Girotto G. +
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 1-gen-2021 Morgan A.La Bianca M.Faletra F.Girotto G. +
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 1-gen-2021 Spedicati B.Cocca M.Palmisano R.Faletra F.Francescatto M.Mezzavilla M.Morgan A.Gasparini P.Girotto G. +
Non-syndromic autosomal dominant hearing loss: The first italian family carrying a mutation in the NCOA3 gene 1-gen-2021 Tesolin P.Morgan A.Concas M. P.Girotto G. +
Mostrati risultati da 61 a 80 di 122
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