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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 6, pp. 1008 - 1022
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 06/2013, Volume 97, Issue 6, pp. 739 - 745
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 09/2011, Volume 365, Issue 13, p. e28
An 8-year-old girl had a 3-month history of progressively impaired vision in the right eye, with paresthesias and spastic paresis of the left arm and leg.... 
Blood vessels | Spastic paresis | Arm | Paresis
Journal Article
by Rainger, Joe and Rainger, Jacqueline K and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, Jamie and Floyd, James A.B and Prescott, Trine and Anderson, Carl and Anderson, Carl A and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Hurles, Matthew E and Hurles, Matthew and FitzPatrick, David R and FitzPatrick, David R and Al-Turki, Saeed and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Ponting, Chris P and Lupski, James R and Houge, Gunnar and UK10K and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 08/2019, Volume 97, Issue 5, pp. 505 - 509
Purpose To investigate whether exposure to antazoline-naphazoline eye drops in the first trimester of pregnancy was associated with an increased risk of... 
eye drops | topical | antazoline‐naphazoline | safety | pregnancy | antazoline-naphazoline | MEDICATIONS | DECONGESTANTS | PHENYLEPHRINE | GASTROSCHISIS | OPHTHALMOLOGY | Pregnancy | Birth defects | Genetic disorders | Pregnant women | Ophthalmic drugs | Confidence intervals | Progeny | Offspring | Statistical analysis | Congenital defects | Teratogenicity | Risk | Exposure | Health risk assessment | Index Medicus
Journal Article
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 2019, Volume 137, Issue 4, pp. 355 - 357
Ocular phenotypes of genetically determined eye disorders vary widely and overlap in physical findings and clinical appearance. This is particularly true of... 
OPHTHALMOLOGY | AXENFELD-RIEGER-SYNDROME | FOXC1 | MUTATIONS | PITX2 | Hypoplasia | Pax6 protein | Iris | Phenotypes | Congenital defects | Aniridia | Eye disorders | Retina | Ophthalmology | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article