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Browsing publications by Miguel Barroso Gil.

Newcastle AuthorsTitleYearFull text
Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome2022
Professor John Sayer
Dr Eric Olinger
Miguel Barroso Gil
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis2022
Dr Eric Olinger
Dr Elisa Molinari
Miguel Barroso Gil
Laura Powell
Dr Colin Miles
et al.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families2021
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome2021
Miguel Barroso Gil
Dr Eric Olinger
Professor John Sayer
Molecular genetics of renal ciliopathies2021
Intisar Al Alawi
Miguel Barroso Gil
Laura Powell
Dr Eric Olinger
Professor John Sayer
et al.
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies2021
Laura Powell
Miguel Barroso Gil
Dr Gavin Clowry
Laura Devlin
Dr Elisa Molinari
et al.
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development2020
Miguel Barroso Gil
Laura Powell
Professor John Sayer
RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders2020