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Judith Fischer

Showing results (11-20 of 174) with videos related to

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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Syndromic ichthyosesJudith Fischer, Alrun Hotz, Katalin Komlosi
Medecine Sciences : M/S|July 17, 2007
[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]Judith Fischer, Anne Negre-Salvayre, Robert Salvayre
Molecules (Basel, Switzerland)|July 24, 2021
An Alternative Approach for the Synthesis of SulfoquinovosyldiacylglycerolTobias Sitz, Hendrik Domey, Judith Fischer, et al.
Clinical and Experimental Dermatology|July 18, 2023
Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 geneHenning Olbrich, Alrun Hotz, Judith Fischer, et al.
Analytical and Bioanalytical Chemistry|January 23, 2021
Development of a targeted HPLC-ESI-QqQ-MS/MS method for the quantification of sulfolipids from a cyanobacterium, selected leafy vegetables, and a microalgae speciesJudith Fischer, Mascha Treblin, Tobias Sitz, et al.
Molecular Syndromology|March 22, 2016
Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion SyndromeAriane Hassfurther, Eleni Komini, Judith Fischer, et al.
JAMA Dermatology|December 3, 2015
Linear Scars in a 4-Week-Old GirlOana-Diana Persa, Judith Fischer, Iliana Tantcheva-Poór
Frontiers in Medicine|August 6, 2025
Case Report: Successful treatment of a novel variant of <i>CARD14</i>-mutated juvenile Pityriasis rubra pilaris with ixekizumabLaura Millak, Matthias Hahn, Judith Fischer, et al.
International Journal of Dermatology|April 13, 2021
Autosomal recessive congenital ichthyoses (ARCI) in a "bathing-suit" distribution: progression over timeMaría Arteaga-Henríquez, Leonie Frommherz, Judith Fischer, et al.
The Journal of Pediatrics|May 6, 2004
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutationRamesh Srinivasan, Nedim Hadzić, Judith Fischer, et al.
Pageof 18

Showing results (11-20 of 174) with videos related to

Sort By:
Pageof 18
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Syndromic ichthyosesJudith Fischer, Alrun Hotz, Katalin Komlosi
Medecine Sciences : M/S|July 17, 2007
[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]Judith Fischer, Anne Negre-Salvayre, Robert Salvayre
Molecules (Basel, Switzerland)|July 24, 2021
An Alternative Approach for the Synthesis of SulfoquinovosyldiacylglycerolTobias Sitz, Hendrik Domey, Judith Fischer, et al.
Clinical and Experimental Dermatology|July 18, 2023
Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 geneHenning Olbrich, Alrun Hotz, Judith Fischer, et al.
Analytical and Bioanalytical Chemistry|January 23, 2021
Development of a targeted HPLC-ESI-QqQ-MS/MS method for the quantification of sulfolipids from a cyanobacterium, selected leafy vegetables, and a microalgae speciesJudith Fischer, Mascha Treblin, Tobias Sitz, et al.
Molecular Syndromology|March 22, 2016
Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion SyndromeAriane Hassfurther, Eleni Komini, Judith Fischer, et al.
JAMA Dermatology|December 3, 2015
Linear Scars in a 4-Week-Old GirlOana-Diana Persa, Judith Fischer, Iliana Tantcheva-Poór
Frontiers in Medicine|August 6, 2025
Case Report: Successful treatment of a novel variant of <i>CARD14</i>-mutated juvenile Pityriasis rubra pilaris with ixekizumabLaura Millak, Matthias Hahn, Judith Fischer, et al.
International Journal of Dermatology|April 13, 2021
Autosomal recessive congenital ichthyoses (ARCI) in a "bathing-suit" distribution: progression over timeMaría Arteaga-Henríquez, Leonie Frommherz, Judith Fischer, et al.
The Journal of Pediatrics|May 6, 2004
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutationRamesh Srinivasan, Nedim Hadzić, Judith Fischer, et al.
Pageof 18