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Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
11 auth.
M. V. van Genderen,
Mieke M. C. Bijveld,
Y. Claassen,
R. Florijn,
J. Pearring,
F. Meire,
...
M. McCall,
F. Riemslag,
R. Gregg,
A. Bergen,
M. Kamermans
|
7 |
2009 |
7
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GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
9 auth.
M. Kamermans,
R. Florijn,
T. Sjoerdsma,
J. Klooster,
Thomas A. Ray,
R. Koenekoop,
...
N. Peachey,
R. Gregg,
A. Bergen
|
7 |
2012 |
7
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Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
10 auth.
C. Boon,
C. Boon,
L. V. D. Born,
L. Visser,
J. Keunen,
A. Bergen,
...
J. Booij,
F. Riemslag,
R. Florijn,
M. Schooneveld
|
6 |
2013 |
6
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Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
10 auth.
Mieke M. C. Bijveld,
R. Florijn,
A. A. Bergen,
L. I. van den Born,
M. Kamermans,
Liesbeth Prick,
...
F. Riemslag,
M. V. van Schooneveld,
Astrid M.L. Kappers,
M. V. van Genderen
|
6 |
2013 |
6
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🐬
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The Phenotypic Spectrum of Albinism.
C. Kruijt,
G. C. de Wit,
A. Bergen,
R. Florijn,
N. Schalij-Delfos,
M. V. van Genderen
|
6 |
2018 |
6
🐬
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|
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Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
8 auth.
J. Booij,
R. Florijn,
B. BrinktenJ.,
W. Loves,
F. Meire,
J. SchooneveldvanM.,
...
M. JongdeP.T.V.,
A. Bergen
|
6 |
2005 |
6
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Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
16 auth.
M. Talib,
M. V. van Schooneveld,
M. V. van Genderen,
J. Wijnholds,
R. Florijn,
J. T. ten Brink,
N. Schalij-Delfos,
G. Dagnelie,
F. Cremers,
R. Wolterbeek,
...
M. Fiocco,
A. Thiadens,
C. Hoyng,
C. Klaver,
A. Bergen,
C. Boon
|
6 |
2017 |
6
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🦁
|
Analysis of antifading reagents for fluorescence microscopy.
R. Florijn,
Johannes Cornelis Maria Slats,
H. Tanke,
A. Raap
|
6 |
1995 |
6
🦁
|
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CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
19 auth.
M. Talib,
M. Schooneveld,
A. Thiadens,
Marta Fiocco,
M. Fiocco,
J. Wijnholds,
R. Florijn,
N. Schalij-Delfos,
M. Genderen,
H. Putter,
...
F. Cremers,
G. Dagnelie,
J. T. Brink,
C. Klaver,
C. Klaver,
L. I. Born,
C. Hoyng,
A. Bergen,
C. Boon
|
5 |
2019 |
5
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The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
24 auth.
M. Talib,
M. J. Schooneveld,
Caroline van Cauwenbergh,
J. Wijnholds,
J. T. Brink,
R. Florijn,
N. Schalij-Delfos,
G. Dagnelie,
M. Genderen,
E. Baere,
...
Magda A. Meester-Smoor,
J. Zaeytijd,
F. Cremers,
L. I. Born,
A. Thiadens,
C. Hoyng,
C. Klaver,
C. Klaver,
B. Leroy,
B. Leroy,
A. Bergen,
A. Bergen,
C. Boon,
C. Boon
|
5 |
2018 |
5
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