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Alrun Hotz

Showing results (11-20 of 21) with videos related to

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Human Mutation|July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisAlrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
Genes|March 28, 2024
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> MutationsAlrun Hotz, Regina Fölster-Holst, Vinzenz Oji, et al.
The Journal of Investigative Dermatology|April 20, 2024
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, et al.
Genes|October 23, 2021
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 SyndromeLuise D Resch, Alrun Hotz, Andreas D Zimmer, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndromeSvenja Alter, Alrun Hotz, Arne Jahn, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|October 7, 2022
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeTheresa Göbel, Lea Berninger, Andrea Schlump, et al.
Acta Dermato-Venereologica|November 20, 2015
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic IchthyosisAlrun Hotz, Vinzenz Oji, Emmanuelle Bourrat, et al.
Genes|March 29, 2023
Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital IchthyosisAlrun Hotz, Julia Kopp, Emmanuelle Bourrat, et al.
Human Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|October 5, 2022
Epidemiology of inherited epidermolysis bullosa in GermanyCristina Has, Moritz Hess, Waltraud Anemüller, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Human Mutation|July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisAlrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
Genes|March 28, 2024
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> MutationsAlrun Hotz, Regina Fölster-Holst, Vinzenz Oji, et al.
The Journal of Investigative Dermatology|April 20, 2024
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, et al.
Genes|October 23, 2021
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 SyndromeLuise D Resch, Alrun Hotz, Andreas D Zimmer, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndromeSvenja Alter, Alrun Hotz, Arne Jahn, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|October 7, 2022
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeTheresa Göbel, Lea Berninger, Andrea Schlump, et al.
Acta Dermato-Venereologica|November 20, 2015
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic IchthyosisAlrun Hotz, Vinzenz Oji, Emmanuelle Bourrat, et al.
Genes|March 29, 2023
Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital IchthyosisAlrun Hotz, Julia Kopp, Emmanuelle Bourrat, et al.
Human Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|October 5, 2022
Epidemiology of inherited epidermolysis bullosa in GermanyCristina Has, Moritz Hess, Waltraud Anemüller, et al.
Pageof 3