Ghent University Academic Bibliography

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Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Dyon Valkenburg, Caroline Van Cauwenbergh (UGent) , Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters (UGent) , Julie De Zaeytijd (UGent) , Alberta AHJ Thiadens, Caroline CW Klaver, et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(11). p.4384-4391
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- Journal Article
- A1
- open access
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133
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Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Laurence HM Pierrache, Bas P Hartel, Erwin van Wijk, Magda A Meester-Smoor, Frans PM Cremers, Elfride De Baere (UGent) , Julie De Zaeytijd (UGent) , Mary J van Schooneveld, Cor WRJ Cremers, Gislin Dagnelie, et al.

(2016) OPHTHALMOLOGY. 123(5). p.1151-1160
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

Alberta AHJ Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, Bart Leroy (UGent) , L Ingeborgh van den Born, Crel B Hoyng, Caroline CW Klaver, Susanne Roosing, Jan-Willem R Pott, Mary J van Schooneveld, et al.

(2012) OPHTHALMOLOGY. 119(4). p.819-826
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Alberta AHJ Thiadens, Anneke I den Hollander, Susanne Roosing, Sander B Nabuurs, Renate C Zekveld-Vroon, Rob WJ Collin, Elfride De Baere (UGent) , Robert K Koenekoop, Mary J van Schooneveld, Tim M Strom, et al.

(2009) AMERICAN JOURNAL OF HUMAN GENETICS. 85(2). p.240-247

Academic Bibliography

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

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