Author/Creator: Clouston, Penny - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Clouston, Penny

1. A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. (4th March 2018)

Authors:: Yusuf, Imran H.; Shanks, Morag E; Clouston, Penny; MacLaren, Robert E.
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 2(2018)
Page Start:: 263
Record Type:: Journal Article
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2. Atypical choroideremia presenting with early‐onset macular atrophy. Issue 6 (28th January 2019)

Authors:: Kontos, Georgios; Kwan, Jennifer; Xue, Kanmin; Patrício, Maria I.; Clouston, Penny; Packham, Emily; MacLaren, Robert E.; Downes, Susan M.
Journal:: Acta ophthalmologica
Issue:: Volume 97:Issue 6(2019)
Page Start:: 633
Record Type:: Journal Article
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3. Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant. (2nd January 2019)

Authors:: Cehajic-Kapetanovic, Jasmina; Cottriall, Charles L.; Jolly, Jasleen K.; Shanks, Morag; Clouston, Penny; Charbel Issa, Peter; MacLaren, Robert E.
Journal:: Ophthalmic genetics
Issue:: Volume 40:Number 1(2019)
Page Start:: 29
Record Type:: Journal Article
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4. MERTK missense variants in three patients with retinitis pigmentosa. (2nd January 2023)

Authors:: Poli, Federica E.; Yusuf, Imran H.; Clouston, Penny; Shanks, Morag; Whitfield, Jennifer; Charbel Issa, Peter; MacLaren, Robert E.
Journal:: Ophthalmic genetics
Issue:: Volume 44:Number 1(2023)
Page Start:: 74
Record Type:: Journal Article
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5. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases. (3rd July 2020)

Authors:: Shah, Mital; Shanks, Morag; Packham, Emily; Williams, Jonathan; Haysmoore, Jesse; MacLaren, Robert E.; Németh, Andrea H.; Clouston, Penny; Downes, Susan M.
Journal:: Ophthalmic genetics
Issue:: Volume 41:Number 4(2020)
Page Start:: 331
Record Type:: Journal Article
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6. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases. (3rd July 2020)

Authors:: Shah, Mital; Shanks, Morag; Packham, Emily; Williams, Jonathan; Haysmoore, Jesse; MacLaren, Robert E.; Németh, Andrea H.; Clouston, Penny; Downes, Susan M.
Journal:: Ophthalmic genetics
Issue:: Volume 41:Number 4(2020)
Page Start:: 331
Record Type:: Journal Article
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7. Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene. (4th July 2018)

Authors:: Gray, Joanna Monika; Orlans, Harry Otway; Shanks, Morag; Clouston, Penny; MacLaren, Robert Elvis
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 508
Record Type:: Journal Article
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8. Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes. (4th July 2019)

Authors:: Randazzo, Nadia M.; Shanks, Morag E.; Clouston, Penny; MacLaren, Robert E.
Journal:: Ocular immunology and inflammation
Issue:: Volume 27:Number 5(2019)
Page Start:: 693
Record Type:: Journal Article
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