Alrun Hotz (A Hotz)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Top Venues

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

The British journal of dermatology

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)
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)
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 David Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes 12 (1) (2021)
Julia Kopp, Cristina Has, Alrun Hotz, Sarah Catharina Grünert, Judith Fischer
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. Genes 12 (8) (2021)
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, Cristina Has, Ulrike Blume-Peytavi, Diana Mitter, Marina Reitenbach, Ingrid Hausser, Andreas David Zimmer, Svenja Alter, Judith Fischer
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Human mutation 40 (12) (2019)
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
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. American journal of medical genetics. Part A 176 (12) (2018)
Alrun Hotz, C Fagerberg, A Vahlquist, A Bygum, H Törmä, M-A Rauschendorf, H Zhang, L Heinz, E Bourrat, I Hausser, V Vestergaard, A Dragomir, A D Zimmer, J Fischer
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. The British journal of dermatology 178 (3) (2018)
Lisa Heinz, E Bourrat, P Vabres, J Thevenon, Alrun Hotz, S Hörer, J Küsel, Andreas David Zimmer, S Alter, R Happle, Judith Fischer
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. The British journal of dermatology 180 (3) (2018)
Alrun Hotz, Emmanuelle Bourrat, Julia Küsel, Vinzenz Oji, Svenja Alter, Lisanne Hake, Mouna Korbi, Hagen Ott, Ingrid Hausser, Andreas D Zimmer, Judith Fischer
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 39 (10) (2018)