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Subject Ophthalmology -- Genetics

1. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. Issue 12 (7th October 2014)

Authors:
Vincent, Ajoy; Forster, Nicole; Maynes, Jason T; Paton, Tara A; Billingsley, Gail; Roslin, Nicole M; Ali, Arfan; Sutherland, Joanne; Wright, Tom; Westall, Carol A; Paterson, Andrew D; Marshall, Christian R; Héon, Elise
Other Names:
Boycott Kym author non-byline.; Friedman Jan author non-byline.; Michaud Jacques author non-byline.; Bernier Francois author non-byline.; Brudno Michael author non-byline.; Fernandez Bridget author non-byline.; Knoppers Bartha author non-byline.; Samuels Mark author non-byline.; Scherer Stephen a...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 12(2014)
Page Start:
797
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. Issue 4 (24th January 2013)

Authors:
Soler, Vincent José; Tran-Viet, Khanh-Nhat; Galiacy, Stéphane D; Limviphuvadh, Vachiranee; Klemm, Thomas Patrick; St Germain, Elizabeth; Fournié, Pierre R; Guillaud, Céline; Maurer-Stroh, Sebastian; Hawthorne, Felicia; Suarez, Cyrielle; Kantelip, Bernadette; Afshari, Natalie A; Creveaux, Isabelle...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 4(2013)
Page Start:
246
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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