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All papers authored by Svenja Alter

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2023 Alrun Hotz

ORCID

, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi

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, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz

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, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl

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and 6 other authors

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

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2022 Judith Fischer

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, Svenja Alter

ORCID

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing

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Svenja Alter

ORCID

, Navid Farassat

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, Sebastian Küchlin

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, Wolf A. Lagrèze, Judith Fischer

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First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

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2021 Luise D. Resch, Alrun Hotz

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, Andreas D. Zimmer

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, Katalin Komlosi

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, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer

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, Svenja Alter

ORCID

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

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