All papers authored by Nicole Weisschuh
Refreshing results…
2023
Jan-Philipp Bodenbender,
Valerio Marino 
,
Leon Bethge,
Katarina Stingl ,
Tobias B. Haack ,
Saskia Biskup,
Susanne Kohl ,
Laura Kühlewein,
Daniele Dell’Orco ,
Nicole Weisschuh
,
Leon Bethge,
Katarina Stingl ,
Tobias B. Haack ,
Saskia Biskup,
Susanne Kohl ,
Laura Kühlewein,
Daniele Dell’Orco ,
Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
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2022
Fadi Nasser,
Susanne Kohl ,
Anne Kurtenbach,
Melanie Kempf,
Saskia Biskup,
Theresia Zuleger,
Tobias B. Haack ,
Nicole Weisschuh ,
Katarina Stingl ,
Eberhart Zrenner
,
Anne Kurtenbach,
Melanie Kempf,
Saskia Biskup,
Theresia Zuleger,
Tobias B. Haack ,
Nicole Weisschuh ,
Katarina Stingl ,
Eberhart Zrenner
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
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Anna Avesani ,
Laura Bielefeld,
Nicole Weisschuh ,
Valerio Marino ,
Pascale Mazzola,
Katarina Stingl ,
Tobias B. Haack ,
Karl-Wilhelm Koch ,
Daniele Dell’Orco
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,
Laura Bielefeld,
Nicole Weisschuh ,
Valerio Marino ,
Pascale Mazzola,
Katarina Stingl ,
Tobias B. Haack ,
Karl-Wilhelm Koch ,
Daniele Dell’Orco
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Milda Reith,
Lena Zeltner,
Karin Schäferhoff,
Dennis Witt,
Theresia Zuleger,
Tobias B. Haack ,
Antje Bornemann,
Michael Alber,
Susanne Ruf,
Ludger Schoels,
Katarina Stingl ,
Nicole Weisschuh
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,
Antje Bornemann,
Michael Alber,
Susanne Ruf,
Ludger Schoels,
Katarina Stingl ,
Nicole Weisschuh
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2020
Nicole Weisschuh ,
Carolin D. Obermaier,
Florian Battke,
Antje Bernd,
Laura Kuehlewein ,
Fadi Nasser,
Ditta Zobor,
Eberhart Zrenner,
Eva Weber,
Bernd Wissinger,
Saskia Biskup,
Katarina Stingl,
Susanne Kohl
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,
Carolin D. Obermaier,
Florian Battke,
Antje Bernd,
Laura Kuehlewein ,
Fadi Nasser,
Ditta Zobor,
Eberhart Zrenner,
Eva Weber,
Bernd Wissinger,
Saskia Biskup,
Katarina Stingl,
Susanne Kohl
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2019
Camille Piro-Mégy,
Emmanuelle Sarzi,
Aleix Tarrés-Solé ,
Marie Péquignot,
Fenna Hensen,
Mélanie Quilès,
Gaël Manes ,
Arka Chakraborty ,
Audrey Sénéchal,
Béatrice Bocquet ,
Chantal Cazevieille,
Agathe Roubertie,
Agnès Müller,
Majida Charif,
David Goudenège
and 10 other authors
,
Marie Péquignot,
Fenna Hensen,
Mélanie Quilès,
Gaël Manes ,
Arka Chakraborty ,
Audrey Sénéchal,
Béatrice Bocquet ,
Chantal Cazevieille,
Agathe Roubertie,
Agnès Müller,
Majida Charif,
David Goudenège
and 10 other authors
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
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Nicole Weisschuh ,
Marc Sturm ,
Britta Baumann,
Isabelle Audo ,
Carmen Ayuso,
Beatrice Bocquet,
Kari Branham,
Brian P. Brooks,
Jaume Catalá‐Mora,
Roberto Giorda,
John R. Heckenlively,
Robert B. Hufnagel,
Samuel G. Jacobson,
Ulrich Kellner,
Sofia Kitsiou‐Tzeli
and 11 other authors
,
Marc Sturm ,
Britta Baumann,
Isabelle Audo ,
Carmen Ayuso,
Beatrice Bocquet,
Kari Branham,
Brian P. Brooks,
Jaume Catalá‐Mora,
Roberto Giorda,
John R. Heckenlively,
Robert B. Hufnagel,
Samuel G. Jacobson,
Ulrich Kellner,
Sofia Kitsiou‐Tzeli
and 11 other authors
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
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