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Author/Creator Wilton, Steve D.

3. Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts. (December 2022)

Authors:
Huang, Di; Thompson, Jennifer A.; Chen, Shang-Chih; Adams, Abbie; Pitout, Ianthe; Lima, Alanis; Zhang, Dan; Jeffery, Rachael C. Heath; Attia, Mary S.; McLaren, Terri L.; Lamey, Tina M.; De Roach, John N.; McLenachan, Samuel; Aung-Htut, May Thandar; Fletcher, Sue; Wilton, Steve D.; Chen, Fred K.
Journal:
Experimental eye research
Issue:
Volume 225(2022)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. (2nd January 2021)

Authors:
Roshandel, Danial; Thompson, Jennifer A.; Charng, Jason; Zhang, Dan; Chelva, Enid; Arunachalam, Sukanya; Attia, Mary S.; Lamey, Tina M.; McLaren, Terri L.; De Roach, John N.; Mackey, David A.; Wilton, Steve D.; Fletcher, Sue; McLenachan, Samuel; Chen, Fred K.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 1(2021)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. (2nd January 2021)

Authors:
Roshandel, Danial; Thompson, Jennifer A.; Charng, Jason; Zhang, Dan; Chelva, Enid; Arunachalam, Sukanya; Attia, Mary S.; Lamey, Tina M.; McLaren, Terri L.; De Roach, John N.; Mackey, David A.; Wilton, Steve D.; Fletcher, Sue; McLenachan, Samuel; Chen, Fred K.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 1(2021)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect. Issue 7 (23rd April 2020)

Authors:
Huang, Di; Thompson, Jennifer A.; Charng, Jason; Chelva, Enid; McLenachan, Samuel; Chen, Shang‐Chih; Zhang, Dan; McLaren, Terri L.; Lamey, Tina M.; Constable, Ian J.; De Roach, John N.; Aung‐Htut, May Thandar; Adams, Abbie; Fletcher, Sue; Wilton, Steve D.; Chen, Fred K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 7(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Primary over‐expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK‐AβPP transgenic mouse. Issue 6 (31st October 2013)

Authors:
Luo, Yue‐Bei; Johnsen, Russell D.; Griffiths, Lisa; Needham, Merrilee; Fabian, Victoria A.; Fletcher, Sue; Wilton, Steve D.; Mastaglia, Frank L.
Journal:
International journal of experimental pathology
Issue:
Volume 94:Issue 6(2013:Dec.)
Page Start:
418
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗