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Journal Article
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 6, pp. 1239 - 1246
Journal Article
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 2010, Volume 51, pp. 5952 - 5957
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2010, Volume 51, pp. 5952 - 5957
PURPOSE: Achromatopsia (ACHM) is a congenital autosomal recessive cone disorder with a presumed stationary nature and only a few causative genes. Animal... 
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 2011, Volume 249, pp. 1527 - 1535
BACKGROUND: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2009, Volume 116, pp. 1984 - 1989.e1
OBJECTIVE: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations,... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2010, Volume 117, pp. 825 - 830.e1
OBJECTIVE: To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the cause of progressive cone dystrophy (CD). DESIGN:... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2009, Volume 85, pp. 240 - 247
Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (CD) and complete and incomplete achromatopsia... 
Journal Article
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, ISSN 1568-5888, 02/2002, Volume 10, Issue 2, pp. 65 - 78
The aetiology of congenital coronary artery fistulas remains a challenging issue. Coronary arteries with an anatomically normal origin may, for obscure... 
treatment | angiographic morphology | clinical picture | congenital and acquired | aetiology | coronary artery fistula | Review
Journal Article
Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, ISSN 0721-832X, 2011, Volume 249, Issue 10, pp. 1527 - 1535
Journal Article
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