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Browsing publications by Dr Elisa Molinari

Newcastle AuthorsTitleYearFull text
Becky Dewhurst
Dr Elisa Molinari
Professor John Sayer
Cell preservation methods and its application to studying rare disease2021
Dr Elisa Molinari
Professor John Sayer
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases2021
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
Intisar Al Alawi
Dr Elisa Molinari
Professor John Sayer
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman2020
Dr Elisa Molinari
Professor John Sayer
Disease modeling to understand the pathomechanisms of human genetic kidney disorders2020
Laura Devlin
Dr Simon Ramsbottom
Lynne Overman
Dr Steven Lisgo
Dr Gavin Clowry
et al.
Embryonic and foetal expression patterns of the ciliopathy gene CEP1642020
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
Dr Simon Ramsbottom
Professor Peter Thelwall
Dr Katrina Wood
Dr Gavin Clowry
Laura Devlin
et al.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome2020
Dr Elisa Molinari
Dr Shalabh Srivastava
Becky Dewhurst
Professor John Sayer
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles2020
Andrew Browning
Dr Gustavo Figueiredo
Dr Oliver Baylis
Dr Emma Montgomery
Dr Elisa Molinari
et al.
A case of ocular cystinosis associated with two potentially severe CTNS mutations2019
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