Search

Author/Creator Wilson, Ian J.

1. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Issue 10 (26th July 2021)

Authors:
Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S.; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al‐Hamed, Mohamed H.; Barroso‐Gil, Miguel; Powell, Laura; Al‐Hussaini, Abdulrahman A.; Rahim, Khawla A.; Almontashiri, Naif A. M.; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Con...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1221
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome. Issue 3 (3rd November 2022)

Authors:
Devlin, Laura A.; Coles, Janice; Jackson, Claire L.; Barroso‐Gil, Miguel; Green, Ben; Walker, Woolf T.; Thomas, N. Simon; Thompson, James; Rock, Simon A.; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J.; Cordell, Heather J.; Olinger, Eric; Miles, Colin G.; Sayer, John A.; Wheway, ...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
330
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Issue 3 (7th February 2018)

Authors:
Pickett, Sarah J.; Grady, John P.; Ng, Yi Shiau; Gorman, Gráinne S.; Schaefer, Andrew M.; Wilson, Ian J.; Cordell, Heather J.; Turnbull, Doug M.; Taylor, Robert W.; McFarland, Robert
Journal:
Annals of clinical and translational neurology
Issue:
Volume 5:Issue 3(2018)
Page Start:
333
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗