|
🐜
|
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
15 auth.
N. Glöckle,
S. Kohl,
J. Mohr,
Tim Scheurenbrand,
A. Sprecher,
N. Weisschuh,
A. Bernd,
G. Rudolph,
M. Schubach,
C. Poloschek,
...
E. Zrenner,
S. Biskup,
W. Berger,
B. Wissinger,
J. Neidhardt
|
8 |
2013 |
8
🐜
|
|
🐜
|
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
30 auth.
I. Audo,
S. Kohl,
B. Leroy,
F. Munier,
X. Guillonneau,
S. Mohand-Saïd,
K. Bujakowska,
E. Nandrot,
B. Lorenz,
M. Preising,
U. Kellner,
A. Renner,
A. Bernd,
A. Antonio,
V. Moskova-Doumanova,
...
Marie‐Elise Lancelot,
C. Poloschek,
I. Drumare,
S. Defoort‐Dhellemmes,
B. Wissinger,
T. Léveillard,
C. Hamel,
D. Schorderet,
E. de Baere,
W. Berger,
S. Jacobson,
E. Zrenner,
J. Sahel,
S. Bhattacharya,
C. Zeitz
|
7 |
2009 |
7
🐜
|
|
🐜
|
IQCB1 mutations in patients with leber congenital amaurosis.
19 auth.
A. Estrada-Cuzcano,
R. Koenekoop,
F. Coppieters,
S. Kohl,
I. Lopez,
R. Collin,
E. de Baere,
D. Roeleveld,
J. Marek,
A. Bernd,
...
K. Rohrschneider,
L. I. van den Born,
F. Meire,
I. Maumenee,
S. Jacobson,
C. Hoyng,
E. Zrenner,
F. Cremers,
A. D. den Hollander
|
6 |
2011 |
6
🐜
|
|
🐜
|
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
24 auth.
N. Weisschuh,
Anja K Mayer,
T. Strom,
S. Kohl,
N. Glöckle,
M. Schubach,
S. Andreasson,
A. Bernd,
D. Birch,
C. Hamel,
...
J. Heckenlively,
S. Jacobson,
Christina Kamme,
U. Kellner,
E. Kunstmann,
P. Maffei,
Charlotte M. Reiff,
K. Rohrschneider,
T. Rosenberg,
G. Rudolph,
R. Vámos,
B. Varsányi,
R. Weleber,
B. Wissinger
|
6 |
2016 |
6
🐜
|
|
🐜
|
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
13 auth.
N. Weisschuh,
Carolin D Obermeier,
F. Battke,
A. Bernd,
L. Kuehlewein,
Fadi Nasser,
D. Zobor,
E. Zrenner,
Eva Weber,
B. Wissinger,
...
S. Biskup,
K. Stingl,
S. Kohl
|
6 |
2020 |
6
🐜
|
|
🐜
|
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
13 auth.
V. Kitiratschky,
Tanja Grau,
A. Bernd,
E. Zrenner,
H. Jägle,
A. Renner,
U. Kellner,
G. Rudolph,
S. Jacobson,
A. Cideciyan,
...
Simone Schaich,
S. Kohl,
B. Wissinger
|
5 |
2008 |
5
🐜
|
|
🐜
|
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
27 auth.
B. Wissinger,
Simone Schaich,
Britta Baumann,
M. Bonin,
H. Jägle,
C. Friedburg,
B. Varsányi,
C. Hoyng,
H. Dollfus,
J. Heckenlively,
T. Rosenberg,
G. Rudolph,
U. Kellner,
R. Salati,
A. Plomp,
...
E. de Baere,
M. Andrassi-Darida,
A. Sauer,
C. Wolf,
D. Zobor,
A. Bernd,
B. Leroy,
P. Enyedi,
F. Cremers,
B. Lorenz,
E. Zrenner,
S. Kohl
|
5 |
2011 |
5
🐜
|
|
🐜
|
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
17 auth.
L. Kuehlewein,
D. Zobor,
K. Stingl,
Melanie Kempf,
Fadi Nasser,
A. Bernd,
S. Biskup,
F. Cremers,
M. Khan,
P. Mazzola,
...
Karin Schäferhoff,
Tilman Heinrich,
T. Haack,
B. Wissinger,
E. Zrenner,
N. Weisschuh,
S. Kohl
|
4 |
2021 |
4
🐜
|
|
🐜
|
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
26 auth.
L. Kuehlewein,
D. Zobor,
S. Andreasson,
C. Ayuso,
S. Banfi,
B. Bocquet,
A. Bernd,
S. Biskup,
C. Boon,
C. Boon,
S. Downes,
M. D. Fischer,
F. Holz,
U. Kellner,
B. Leroy,
...
I. Meunier,
Fadi Nasser,
T. Rosenberg,
G. Rudolph,
K. Stingl,
A. Thiadens,
B. Wilhelm,
B. Wissinger,
E. Zrenner,
S. Kohl,
N. Weisschuh
|
3 |
2020 |
3
🐜
|
