N. Weisschuh
发表
S. Beck,
Marina Garcia Garrido,
V. Sothilingam,
2015,
Nature Genetics.
E. Zrenner,
W. Berger,
M. Schubach,
2013,
European Journal of Human Genetics.
Christian Y Mardin,
Peter Nürnberg,
Arif B Ekici,
2011,
European Journal of Human Genetics.
P. May,
W. Wurst,
R. Krüger,
2020,
Science Translational Medicine.
B. Wilhelm,
E. Zrenner,
T. Rosenberg,
2020,
JAMA ophthalmology.
B. Wissinger,
E. Gramer,
N. Weisschuh,
2012,
Molecular vision.
E. Zrenner,
S. Kohl,
B. Baumann,
2018,
Investigative ophthalmology & visual science.
Retina Phenotype Variations Caused by Mutations in the RP 1 L 1 Gene in a Large Mainly German Cohort
Saskia,
E. Zrenner,
S. Kohl,
2018
.
Sarah C. Nelson,
U. Thorsteinsdóttir,
M. Nöthen,
2017,
Nature Genetics.
M. Bonin,
B. Wissinger,
N. Weisschuh,
2007,
Experimental eye research.
E. Zrenner,
K. Stingl,
T. Haack,
2022,
Genes.
Robert N Weinreb,
Peter Kraft,
Terry Gaasterland,
2015,
Nature Genetics.
E. Zrenner,
L. Kuehlewein,
G. Milan,
2018,
Acta ophthalmologica.
E. Zrenner,
V. Sothilingam,
M. Seeliger,
2021,
British Journal of Ophthalmology.
Anna Skorczyk-Werner,
A. Wawrocka,
Katarzyna Wicher,
2017,
European Journal of Human Genetics.
E. Zrenner,
F. Cremers,
K. Stingl,
2021,
International journal of molecular sciences.
S. Kohl,
D. Zobor,
N. Weisschuh,
2018,
Ophthalmic genetics.
A. D. den Hollander,
E. Zrenner,
F. Cremers,
2019,
American journal of ophthalmology.
T. Strom,
B. Wissinger,
K. Rohrschneider,
2015,
European Journal of Human Genetics.
E. Zrenner,
S. Kohl,
D. Zobor,
2015,
Acta ophthalmologica.
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
T. Haack,
B. Wissinger,
N. Weisschuh,
2020,
BMC medical genetics.
A. Hofman,
A. Uitterlinden,
A. Paterson,
2012
.
C. Wolf,
B. Wissinger,
E. Gramer,
2008,
Clinical genetics.
C. Wolf,
B. Wissinger,
E. Gramer,
2006,
Investigative ophthalmology & visual science.
T. Rosenberg,
J. Heckenlively,
D. Birch,
2016,
Scientific Reports.
K. Stingl,
T. Haack,
B. Wissinger,
2021,
International journal of molecular sciences.
E. De Baere,
R. De Rycke,
F. Coppieters,
2019,
Clinical genetics.
U. Schlötzer-Schrehardt,
C. Mardin,
H. Sticht,
2012,
Human molecular genetics.
S. Jacobson,
V. Marino,
K. Koch,
2016,
Human molecular genetics.
C. Wolf,
B. Wissinger,
E. Gramer,
2005,
Molecular vision.
L. Vissers,
A. Hoischen,
I. Fajardy,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
E. Gramer,
N. Weisschuh,
G. Gramer,
2017,
Journal of glaucoma.
Central Visual Function and Genotype–Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa
B. Wilhelm,
E. Zrenner,
K. Stingl,
2022,
Investigative ophthalmology & visual science.
A. Jablonski-Momeni,
E. Gramer,
N. Weisschuh,
2010,
Case reports in medicine.
A. Stellzig-Eisenhauer,
N. Weisschuh,
P. Meyer-Marcotty,
2008,
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.
P. Sieving,
N. Tanimoto,
S. Beck,
2018,
The Journal of clinical investigation.
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia
V. Sothilingam,
M. Seeliger,
B. Wilhelm,
2020,
JAMA ophthalmology.
C. Wolf,
B. Wissinger,
E. Gramer,
2009,
American journal of ophthalmology.
R. Weinreb,
H. Sticht,
A. Reis,
2016,
Orphanet Journal of Rare Diseases.
D. Sharon,
S. Kohl,
E. Banin,
2021,
Molecular vision.
A. Green,
K. Stingl,
J. Heckenlively,
2018,
Human mutation.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Skorczyk-Werner,
A. Wawrocka,
Katarzyna Wicher,
2018,
Molecular vision.
E. Zrenner,
K. Stingl,
L. Kuehlewein,
2020,
Human mutation.
S. Jacobson,
E. Zrenner,
K. Stingl,
2017,
Scientific Reports.
S. Jacobson,
T. Strom,
T. Rosenberg,
2016,
PloS one.
K. Stingl,
T. Haack,
N. Weisschuh,
2022,
International journal of molecular sciences.
T. Schubert,
L. Rüttiger,
P. Heiduschka,
2015,
Cellular and Molecular Life Sciences.
V. Marino,
D. Dell’Orco,
T. Haack,
2021,
Human molecular genetics.
T. Neuhann,
B. Wissinger,
S. Kohl,
2021,
PloS one.
H. Wilhelm,
D. Goudenège,
Majida Charif,
2019,
The Journal of clinical investigation.
M. Synofzik,
B. Wissinger,
C. Kernstock,
2019,
BMC Medical Genetics.
C. Hammond,
P. Hysi,
B. Wissinger,
2020,
JAMA ophthalmology.
F. Cremers,
K. Carss,
G. Arno,
2019,
Genetics in Medicine.
B. Wissinger,
N. Weisschuh,
Elena Buena-Atienza,
2020,
Progress in Retinal and Eye Research.
B. Müller-Myhsok,
C. Wolf,
B. Wissinger,
2010,
Journal of glaucoma.
U. Schlötzer-Schrehardt,
C. Mardin,
F. Kruse,
2009,
Investigative ophthalmology & visual science.
Z. Tümer,
E. Baere,
B. Wissinger,
2011,
European Journal of Human Genetics.
S. Kohl,
N. Weisschuh,
Peggy Reuter,
2023,
Scientific Reports.
H. Prokisch,
K. Stingl,
B. Wissinger,
2021,
International journal of molecular sciences.
U. Schiefer,
N. Weisschuh,
2003,
Developments in ophthalmology.
M. Bonin,
M. McKibbin,
C. Inglehearn,
2015,
Molecular vision.
S. Jacobson,
D. Sharon,
K. Stingl,
2019,
Human mutation.
B. Wilhelm,
E. Zrenner,
M. Ueffing,
2019,
Translational vision science & technology.
F. Cremers,
B. Wissinger,
S. Kohl,
2018,
bioRxiv.
K. Koch,
E. Souzeau,
J. Craig,
2021,
Genes.
T. de Ravel,
K. Dahan,
M. de Rademaeker,
2015,
Human mutation.
A. Hofman,
A. Uitterlinden,
A. Paterson,
2012,
PLoS genetics.
V. Marino,
D. Dell’Orco,
U. Kellner,
2021,
International journal of molecular sciences.
M. Nöthen,
M. Brown,
Y. Teo,
2015,
Nature Genetics.
A. Riess,
B. Wissinger,
N. Weisschuh,
2012,
Molecular vision.
J. Vingerling,
J. Brandstätter,
C. Mardin,
2009,
American journal of human genetics.
Dean Y. Li,
Xianjun Zhu,
C. Mardin,
2019,
Genetics in Medicine.
Christian Y Mardin,
Kari Stefansson,
Fernando Rivadeneira,
2011,
Human molecular genetics.
U. Schlötzer-Schrehardt,
C. Mardin,
F. Kruse,
2010,
Journal of glaucoma.
B. Müller-Myhsok,
C. Wolf,
B. Wissinger,
2009,
BMC Medical Genetics.
L. Vissers,
I. Fajardy,
D. Sharon,
2023,
HGG advances.
K. Stingl,
V. Marino,
D. Dell’Orco,
2023,
International journal of molecular sciences.
Caroline C W Klaver,
Klaus Rohrschneider,
Susanne Roosing,
2013,
American journal of human genetics.
W. Lagrèze,
T. Haack,
B. Wissinger,
2022,
Journal of Medical Genetics.
N. Weisschuh,
2011
.
U. Schlötzer-Schrehardt,
C. Mardin,
H. Sticht,
2012
.
M. Carbonelli,
P. Gohier,
P. Yu-Wai-Man,
2021,
Brain communications.
B. Müller-Myhsok,
C. Wolf,
B. Wissinger,
2010,
BMC Genetics.
K. Stingl,
V. Marino,
K. Koch,
2022,
International journal of molecular sciences.
V. Marino,
K. Koch,
D. Dell’Orco,
2020,
ACS chemical neuroscience.
E. Zrenner,
S. Kohl,
D. Zobor,
2023,
International journal of molecular sciences.
S. Letteboer,
R. Roepman,
C. Mardin,
2011,
European Journal of Human Genetics.
E. Zrenner,
D. Besch,
H. Jägle,
2005,
British Journal of Ophthalmology.
M. Nöthen,
M. Brown,
Y. Teo,
2015,
Nature Genetics.
T. Schubert,
L. Rüttiger,
P. Heiduschka,
2015,
Cellular and Molecular Life Sciences.
C. Wolf,
B. Wissinger,
E. Gramer,
2007,
Molecular vision.
Aristides B. Arrenberg,
E. Zrenner,
B. Wissinger,
2021,
Human molecular genetics.
K. Stingl,
T. Haack,
N. Weisschuh,
2022,
Molecular genetics & genomic medicine.
F. Cremers,
K. Carss,
G. Arno,
2019,
Genetics in Medicine.
T. Strom,
N. Weisschuh,
S. Andreasson,
2016,
Acta ophthalmologica.
K. Stingl,
M. Sturm,
S. Ossowski,
2023,
Journal of Medical Genetics.
R. Ritch,
D. Garway-Heath,
J. Wiggs,
2022,
Ophthalmology.
U. Thorsteinsdóttir,
K. Stefánsson,
C. Klaver,
2011,
Human molecular genetics.
V. Marino,
D. Dell’Orco,
N. Weisschuh,
2024,
Scientific reports.
N. Weisschuh,
T. Krohne,
G. Spital,
2023,
European journal of ophthalmology.