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First Description of Inheritance of a Postzygotic <i>OPA1</i> Mosaic Variant by Svenja Alter, Navid Farassat, Sebastian Küchlin, Wolf A. Lagrèze, Judith Fischer
Published 2022-03-01
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Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations by Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Published 2024-02-01
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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome by 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
Published 2021-09-01
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Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis by 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, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
Published 2023-03-01
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Meta-Analysis of Mutations in <i>ALOX12B</i> or <i>ALOXE3</i> Identified in a Large Cohort of 224 Patients by Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D. Irvine, Regina C. Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C. Bolling, Katariina Hannula-Jouppi, Andreas D. Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Published 2021-01-01
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