Browse by UCL people
Group by: Type | Date
Number of items: 6.
Article
Aldunate, EZ;
Di Foggia, V;
Di Marco, F;
Hervas, LA;
Ribeiro, JC;
Holder, DL;
Patel, A;
... Sowden, JC; + view all
(2019)
Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision.
Scientific Reports
, 9
, Article 2314. 10.1038/s41598-018-38294-9.
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Kelberman, D;
Islam, L;
Lakowski, J;
Bacchelli, C;
Chanudet, E;
Lescai, F;
Patel, A;
... Sowden, JC; + view all
(2014)
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
, 23
(10)
pp. 2511-2526.
10.1093/hmg/ddt643.
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Patel, A;
Hayward, JD;
Tailor, V;
Nyanhete, R;
Ahlfors, H;
Gabriel, C;
Jannini, TB;
... Sowden, JC; + view all
(2019)
The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Ophthalmology
, 126
(6)
pp. 888-907.
10.1016/j.ophtha.2018.12.050.
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Patel, A;
Sowden, JC;
(2017)
Genes and pathways in optic fissure closure.
Seminars in Cell and Developmental Biology
10.1016/j.semcdb.2017.10.010.
(In press).
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Welby, E;
Lakowski, J;
Di Foggia, V;
Budinger, D;
Gonzalez-Cordero, A;
Lun, ATL;
Epstein, M;
... Sowden, JC; + view all
(2017)
Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells.
Stem Cell Reports
, 9
(6)
pp. 1898-1915.
10.1016/j.stemcr.2017.10.018.
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Thesis
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Patel, Aara Bimal;
(2018)
Understanding the Genetics of Ocular Coloboma and Optic Fissure Closure.
Doctoral thesis (Ph.D), UCL (University College London).
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