All papers authored by Judith Fischer
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2023
Alrun Hotz 
,
Julia Kopp,
Emmanuelle Bourrat,
Vinzenz Oji,
Kira Süßmuth,
Katalin Komlosi ,
Bakar Bouadjar,
Iliana Tantcheva-Poór,
Maritta Hellström Pigg,
Regina C. Betz ,
Kathrin Giehl,
Fiona Schedel,
Lisa Weibel,
Solveig Schulz,
Dora V. Stölzl
and 6 other authors
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,
Julia Kopp,
Emmanuelle Bourrat,
Vinzenz Oji,
Kira Süßmuth,
Katalin Komlosi ,
Bakar Bouadjar,
Iliana Tantcheva-Poór,
Maritta Hellström Pigg,
Regina C. Betz ,
Kathrin Giehl,
Fiona Schedel,
Lisa Weibel,
Solveig Schulz,
Dora V. Stölzl
and 6 other authors
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Svenja Alter ,
Navid Farassat ,
Sebastian Küchlin ,
Wolf A. Lagrèze,
Judith Fischer
,
Navid Farassat ,
Sebastian Küchlin ,
Wolf A. Lagrèze,
Judith Fischer
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
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2021
Anna Clara Schnause,
Katalin Komlosi ,
Barbara Herr,
Jürgen Neesen,
Paul Dremsek,
Thomas Schwarz,
Andreas Tzschach ,
Sabine Jägle,
Ekkehart Lausch,
Judith Fischer ,
Birgitta Gläser
,
Barbara Herr,
Jürgen Neesen,
Paul Dremsek,
Thomas Schwarz,
Andreas Tzschach ,
Sabine Jägle,
Ekkehart Lausch,
Judith Fischer ,
Birgitta Gläser
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
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Luise D. Resch,
Alrun Hotz ,
Andreas D. Zimmer ,
Katalin Komlosi ,
Nina Singh,
Andreas Tzschach,
Marisa Windfuhr-Blum,
Ingolf Juhasz-Boess,
Thalia Erbes,
Judith Fischer ,
Svenja Alter
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,
Andreas D. Zimmer ,
Katalin Komlosi ,
Nina Singh,
Andreas Tzschach,
Marisa Windfuhr-Blum,
Ingolf Juhasz-Boess,
Thalia Erbes,
Judith Fischer ,
Svenja Alter
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Dillon Mintoff ,
Isabella Borg ,
Julia Vornweg ,
Liam Mercieca,
Rijad Merdzanic,
Johannes Numrich,
Susan Aquilina,
Nikolai Paul Pace ,
Judith Fischer
,
Isabella Borg ,
Julia Vornweg ,
Liam Mercieca,
Rijad Merdzanic,
Johannes Numrich,
Susan Aquilina,
Nikolai Paul Pace ,
Judith Fischer
A novel SPINK5 donor splice site variant in a child with Netherton syndrome
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Alrun Hotz ,
Julia Kopp,
Emmanuelle Bourrat,
Vinzenz Oji,
Katalin Komlosi,
Kathrin Giehl,
Bakar Bouadjar,
Anette Bygum,
Iliana Tantcheva-Poor,
Maritta Hellström Pigg,
M. H. Pigg,
Cristina Has,
Zhou Yang,
Alan D. Irvine,
Regina C. Betz
and 17 other authors
,
Julia Kopp,
Emmanuelle Bourrat,
Vinzenz Oji,
Katalin Komlosi,
Kathrin Giehl,
Bakar Bouadjar,
Anette Bygum,
Iliana Tantcheva-Poor,
Maritta Hellström Pigg,
M. H. Pigg,
Cristina Has,
Zhou Yang,
Alan D. Irvine,
Regina C. Betz
and 17 other authors
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
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2020
Svenja Alter,
Andreas David Zimmer ,
Misun Park ,
Jianli Gong,
Almuth Caliebe,
Regina Fölster-Holst,
Antonio Torrelo,
Isabel Colmenero,
Susan F. Steinberg,
Judith Fischer
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,
Misun Park ,
Jianli Gong,
Almuth Caliebe,
Regina Fölster-Holst,
Antonio Torrelo,
Isabel Colmenero,
Susan F. Steinberg,
Judith Fischer
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2019
Steffen Hörer ,
Slaheddine Marrakchi ,
Franz P. W. Radner ,
Gerd Zolles ,
Lisa Heinz ,
Thomas O. Eichmann ,
Cristina Has ,
Pavel Salavei ,
Nadia Mahfoudh ,
Hamida Turki ,
Andreas D. Zimmer ,
Judith Fischer
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,
Slaheddine Marrakchi ,
Franz P. W. Radner ,
Gerd Zolles ,
Lisa Heinz ,
Thomas O. Eichmann ,
Cristina Has ,
Pavel Salavei ,
Nadia Mahfoudh ,
Hamida Turki ,
Andreas D. Zimmer ,
Judith Fischer
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Nadja Ballin ,
Alrun Hotz ,
Emmanuelle Bourrat,
Julia Küsel,
Vinzenz Oji,
Bakar Bouadjar,
Davide Brognoli,
Geoffroy Hickman,
Lisa Heinz ,
Pierre Vabres,
Slaheddine Marrakchi,
Stéphanie Leclerc‐Mercier,
Alan Irvine,
Gianluca Tadini,
Henning Hamm
and 8 other authors
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,
Alrun Hotz ,
Emmanuelle Bourrat,
Julia Küsel,
Vinzenz Oji,
Bakar Bouadjar,
Davide Brognoli,
Geoffroy Hickman,
Lisa Heinz ,
Pierre Vabres,
Slaheddine Marrakchi,
Stéphanie Leclerc‐Mercier,
Alan Irvine,
Gianluca Tadini,
Henning Hamm
and 8 other authors
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2018
Svenja Alter,
Alrun Hotz ,
Arne Jahn,
Nataliya Di Donato ,
Evelin Schröck,
Martin Smitka,
Maja von der Hagen,
Jens Schallner,
Mario Menschikowski,
Claus Gillitzer,
Martin W. Laass,
Judith Fischer ,
Andreas Tzschach
,
Arne Jahn,
Nataliya Di Donato ,
Evelin Schröck,
Martin Smitka,
Maja von der Hagen,
Jens Schallner,
Mario Menschikowski,
Claus Gillitzer,
Martin W. Laass,
Judith Fischer ,
Andreas Tzschach
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
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