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Browsing publications by Laura Powell.

Newcastle AuthorsTitleYearFull text
Carina Oliva
Laura Powell
Dr Ian Wilson
Dr Sarah Rice
Dr Colin Miles
et al.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations2022
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
Professor John Sayer
ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses2021
Intisar Al Alawi
Laura Powell
Dr Sarah Rice
Professor John Sayer
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure2021
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
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
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
Miguel Barroso Gil
Laura Powell
Professor John Sayer
RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders2020