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Svenja Alter

Showing results (11-20 of 22) 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.
Journal of the European Academy of Dermatology and Venereology : JEADV|May 14, 2024
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohortLeonie Frommherz, Kathrin Giehl, Josephine Hofmann, 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.
Plant Physiology|December 7, 2016
SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene ExpressionFrancesca Resentini, Philipp Cyprys, Joshua G Steffen, 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.
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.
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.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|June 28, 2018
A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation familyChristina R Glöcklhofer, Johannes Steinfurt, Gerlind Franke, 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.
Pageof 3

Showing results (11-20 of 22) 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.
Journal of the European Academy of Dermatology and Venereology : JEADV|May 14, 2024
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohortLeonie Frommherz, Kathrin Giehl, Josephine Hofmann, 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.
Plant Physiology|December 7, 2016
SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene ExpressionFrancesca Resentini, Philipp Cyprys, Joshua G Steffen, 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.
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.
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.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|June 28, 2018
A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation familyChristina R Glöcklhofer, Johannes Steinfurt, Gerlind Franke, 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.
Pageof 3