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Judith Fischer

Showing results (131-140 of 174) with videos related to

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Human Molecular Genetics|October 23, 2021
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patientsRobert Pilz, Lukáš Opálka, Adam Majcher, et al.
American Journal of Human Genetics|August 2, 2016
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular AdhesionsManuela Pigors, Ofer Sarig, Lisa Heinz, et al.
The Journal of Investigative Dermatology|February 27, 2003
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de MeledaSlaheddine Marrakchi, Stéphanie Audebert, Bakar Bouadjar, et al.
Cell Stem Cell|February 8, 2020
Defining the Adult Neural Stem Cell Niche Proteome Identifies Key Regulators of Adult NeurogenesisJacob Kjell, Judith Fischer-Sternjak, Amelia J Thompson, 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.
The British Journal of Dermatology|January 14, 2026
Progressive symmetric erythrokeratoderma associated with biallelic PNPLA1 variantsXingyuan Jiang, Caroline Echeandia-Francis, Mitra V Mani, 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.
Neuron|May 14, 2026
Cilia beating of ependymal cells regulates adult neural stem cell quiescence via mechanical forces mediated by PKD1/2-TRPM3Cedric Bressan, Archana Gengatharan, Raquel Rodriguez-Aller, et al.
Nature Communications|April 3, 2024
Shared inflammatory glial cell signature after stab wound injury, revealed by spatial, temporal, and cell-type-specific profiling of the murine cerebral cortexChristina Koupourtidou, Veronika Schwarz, Hananeh Aliee, et al.
Pageof 18

Showing results (131-140 of 174) with videos related to

Sort By:
Pageof 18
Human Molecular Genetics|October 23, 2021
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patientsRobert Pilz, Lukáš Opálka, Adam Majcher, et al.
American Journal of Human Genetics|August 2, 2016
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular AdhesionsManuela Pigors, Ofer Sarig, Lisa Heinz, et al.
The Journal of Investigative Dermatology|February 27, 2003
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de MeledaSlaheddine Marrakchi, Stéphanie Audebert, Bakar Bouadjar, et al.
Cell Stem Cell|February 8, 2020
Defining the Adult Neural Stem Cell Niche Proteome Identifies Key Regulators of Adult NeurogenesisJacob Kjell, Judith Fischer-Sternjak, Amelia J Thompson, 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.
The British Journal of Dermatology|January 14, 2026
Progressive symmetric erythrokeratoderma associated with biallelic PNPLA1 variantsXingyuan Jiang, Caroline Echeandia-Francis, Mitra V Mani, 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.
Neuron|May 14, 2026
Cilia beating of ependymal cells regulates adult neural stem cell quiescence via mechanical forces mediated by PKD1/2-TRPM3Cedric Bressan, Archana Gengatharan, Raquel Rodriguez-Aller, et al.
Nature Communications|April 3, 2024
Shared inflammatory glial cell signature after stab wound injury, revealed by spatial, temporal, and cell-type-specific profiling of the murine cerebral cortexChristina Koupourtidou, Veronika Schwarz, Hananeh Aliee, et al.
Pageof 18