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Judith Fischer

Showing results (91-100 of 174) with videos related to

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The Journal of Investigative Dermatology|January 11, 2008
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent modelStephanie Claus, Judith Fischer, Hala Mégarbané, et al.
Human Molecular Genetics|January 5, 2002
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Florence Jobard, Caroline Lefèvre, Aysen Karaduman, et al.
Human Molecular Genetics|April 2, 2003
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeFlorence Jobard, Bakar Bouadjar, Frédéric Caux, et al.
Dermatopathology (Basel, Switzerland)|March 27, 2026
Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed CasesKira Süßmuth, Vinzenz Oji, Jacqueline Bodes, et al.
Genes|November 27, 2021
Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome TranslocationAnna Clara Schnause, Katalin Komlosi, Barbara Herr, et al.
Journal of Medical Genetics|August 21, 2020
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in <i>protein kinase D1</i>Svenja Alter, Andreas David Zimmer, Misun Park, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in HumansLisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, et al.
Frontiers in Genetics|December 27, 2021
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic IchthyosisKatalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, et al.
The British Journal of Dermatology|January 23, 2023
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstansSabine Jägle, Hao-Hsiang Hsu, Hazem A Juratli, et al.
Acta Dermato-Venereologica|May 28, 2015
Large deletions in the NSDHL gene in two patients with CHILD syndromeZhou Yang, Britta Hartmann, Zhe Xu, et al.
Pageof 18

Showing results (91-100 of 174) with videos related to

Sort By:
Pageof 18
The Journal of Investigative Dermatology|January 11, 2008
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent modelStephanie Claus, Judith Fischer, Hala Mégarbané, et al.
Human Molecular Genetics|January 5, 2002
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Florence Jobard, Caroline Lefèvre, Aysen Karaduman, et al.
Human Molecular Genetics|April 2, 2003
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeFlorence Jobard, Bakar Bouadjar, Frédéric Caux, et al.
Dermatopathology (Basel, Switzerland)|March 27, 2026
Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed CasesKira Süßmuth, Vinzenz Oji, Jacqueline Bodes, et al.
Genes|November 27, 2021
Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome TranslocationAnna Clara Schnause, Katalin Komlosi, Barbara Herr, et al.
Journal of Medical Genetics|August 21, 2020
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in <i>protein kinase D1</i>Svenja Alter, Andreas David Zimmer, Misun Park, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in HumansLisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, et al.
Frontiers in Genetics|December 27, 2021
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic IchthyosisKatalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, et al.
The British Journal of Dermatology|January 23, 2023
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstansSabine Jägle, Hao-Hsiang Hsu, Hazem A Juratli, et al.
Acta Dermato-Venereologica|May 28, 2015
Large deletions in the NSDHL gene in two patients with CHILD syndromeZhou Yang, Britta Hartmann, Zhe Xu, et al.
Pageof 18