Katalin Komlosi

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Topics

Intellectual Disability

Top Venues

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Journal of the European Academy of Dermatology and Venereology : JEADV

This page only lists publications with an associated author ORCID identifier.

Publications

Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
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 David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (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, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (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, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, Julia Kopp, Malin Dewenter, Andreas David Zimmer, Oliver Bartsch, Matthias Linke, Kristin Technau-Hafsi, Susanne Gerber, Judith Fischer, Cristina Has
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2. Journal of the European Academy of Dermatology and Venereology : JEADV (2022)
Luise D Resch, Alrun Hotz, Andreas David Zimmer, Katalin Komlosi, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer, Svenja Alter
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. Genes 12 (10) (2021)
Anna Clara Schnause, Katalin Komlosi, 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. Genes 12 (11) (2021)
Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD reports 55 (1) (2020)
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders. Orphanet journal of rare diseases 13 (1) (2018)