|
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
34 auth.
N. Weisschuh,
P. Mazzola,
Theresia Zuleger,
K. Schaeferhoff,
L. Kühlewein,
F. Kortüm,
Dennis Witt,
Alexandra Liebmann,
Ruth J Falb,
Lisa Pohl,
Milda Reith,
Lara G. Stühn,
Miriam Bertrand,
A. Müller,
Nicolas Casadei,
...
Olga Kelemen,
Carina Kelbsch,
Christoph Kernstock,
Paul Richter,
Francoise Sadler,
German Demidov,
Leon Schütz,
J. Admard,
M. Sturm,
U. Grasshoff,
F. Tonagel,
Tilman Heinrich,
Fadi Nasser,
B. Wissinger,
S. Ossowski,
S. Kohl,
O. Riess,
K. Stingl,
Tobias B. Haack
|
5 |
2023 |
5
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|
|
🐬
|
β-Adrenoceptor density of intact mononuclear leukocytes in subgroups of depressive disorders
R. Jeanningros,
P. Mazzola,
Jean-Michel Azorin,
C. Samuelian-Massa,
René Tissot
|
5 |
1991 |
5
🐬
|
|
🐜
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Platelet [3H]paroxetine binding, 5-HT-stimulated Ca2+ response, and 5-HT content in winter seasonal affective disorder
10 auth.
N. Ozaki,
N. Rosenthal,
P. Mazzola,
C. Chiueh,
T. Hardin,
D. Garcia-Borreguero,
...
P. Schwartz,
E. Turner,
D. Oren,
D. Murphy
|
4 |
1994 |
4
🐜
|
|
🐜
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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
12 auth.
N. Weisschuh,
Simone Schimpf-Linzenbold,
P. Mazzola,
Sinja Kieninger,
Ting Xiao,
U. Kellner,
...
T. Neuhann,
C. Kelbsch,
F. Tonagel,
Helmut Wilhelm,
S. Kohl,
B. Wissinger
|
4 |
2021 |
4
🐜
|
|
🐜
|
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
🐜
|
|
🐜
|
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
7 auth.
N. Weisschuh,
P. Mazzola,
Tilman Heinrich,
T. Haack,
B. Wissinger,
F. Tonagel,
...
C. Kelbsch
|
4 |
2020 |
4
🐜
|
|
🐜
|
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy
14 auth.
Sinja Kieninger,
Ting Xiao,
N. Weisschuh,
S. Kohl,
K. Rüther,
P. Kroisel,
Tobias Brockmann,
S. Knappe,
U. Kellner,
W. Lagrèze,
...
P. Mazzola,
T. Haack,
B. Wissinger,
F. Tonagel
|
4 |
2022 |
4
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