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Judith Fischer

Showing results (71-80 of 174) with videos related to

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Pigment Cell & Melanoma Research|August 18, 2018
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2AMarc-Alexander Rauschendorf, Andreas D Zimmer, Astrid Laut, et al.
Nature Genetics|December 26, 2006
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathyJudith Fischer, Caroline Lefèvre, Eva Morava, et al.
Human Molecular Genetics|September 25, 2003
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de MeledaFabrice Chimienti, Ronald C Hogg, Laure Plantard, et al.
Cell|January 22, 2021
Adult neural stem cell activation in mice is regulated by the day/night cycle and intracellular calcium dynamicsArchana Gengatharan, Sarah Malvaut, Alina Marymonchyk, et al.
Human Molecular Genetics|August 20, 2004
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosisCaroline Lefèvre, Bakar Bouadjar, Aysen Karaduman, et al.
Molecular Genetics & Genomic Medicine|February 3, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndromeDillon Mintoff, Isabella Borg, Julia Vornweg, et al.
Clinical Case Reports|May 9, 2024
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case reportKevin Koschitzki, Bernadett Kurz, Julia Schreml, et al.
Molecular Genetics and Genomics : MGG|April 8, 2020
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigreeAfagh Alavi, Faezeh Darki, Mohammad Masoud Rahimi Bidgoli, et al.
Frontiers in Immunology|April 25, 2022
Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa AcquisitaFranziska Schauer, Alexander Nyström, Manfred Kunz, et al.
American Journal of Human Genetics|July 28, 2009
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndromeJoakim Klar, Martina Schweiger, Robert Zimmerman, et al.
Pageof 18

Showing results (71-80 of 174) with videos related to

Sort By:
Pageof 18
Pigment Cell & Melanoma Research|August 18, 2018
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2AMarc-Alexander Rauschendorf, Andreas D Zimmer, Astrid Laut, et al.
Nature Genetics|December 26, 2006
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathyJudith Fischer, Caroline Lefèvre, Eva Morava, et al.
Human Molecular Genetics|September 25, 2003
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de MeledaFabrice Chimienti, Ronald C Hogg, Laure Plantard, et al.
Cell|January 22, 2021
Adult neural stem cell activation in mice is regulated by the day/night cycle and intracellular calcium dynamicsArchana Gengatharan, Sarah Malvaut, Alina Marymonchyk, et al.
Human Molecular Genetics|August 20, 2004
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosisCaroline Lefèvre, Bakar Bouadjar, Aysen Karaduman, et al.
Molecular Genetics & Genomic Medicine|February 3, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndromeDillon Mintoff, Isabella Borg, Julia Vornweg, et al.
Clinical Case Reports|May 9, 2024
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case reportKevin Koschitzki, Bernadett Kurz, Julia Schreml, et al.
Molecular Genetics and Genomics : MGG|April 8, 2020
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigreeAfagh Alavi, Faezeh Darki, Mohammad Masoud Rahimi Bidgoli, et al.
Frontiers in Immunology|April 25, 2022
Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa AcquisitaFranziska Schauer, Alexander Nyström, Manfred Kunz, et al.
American Journal of Human Genetics|July 28, 2009
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndromeJoakim Klar, Martina Schweiger, Robert Zimmerman, et al.
Pageof 18