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Judith Fischer

Showing results (111-120 of 174) with videos related to

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Dermatology (Basel, Switzerland)|July 30, 2002
Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), CroatiaA Bakija-Konsuo, A Basta-Juzbasic, I Rudan, 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.
Journal of the European Academy of Dermatology and Venereology : JEADV|November 4, 2022
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, et al.
Acta Dermato-Venereologica|January 25, 2021
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected SkinSabine Jägle, Hazem A Juratli, Geoffroy Hickman, et al.
The EMBO Journal|September 22, 2021
Molecular diversity of diencephalic astrocytes reveals adult astrogenesis regulated by Smad4Stefanie Ohlig, Solène Clavreul, Manja Thorwirth, et al.
Human Molecular Genetics|September 24, 2004
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1Meral Topçu, Florence Jobard, Sophie Halliez, et al.
The Journal of Investigative Dermatology|December 2, 2006
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, 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.
Human Mutation|September 22, 2011
Kindler syndrome: extension of FERMT1 mutational spectrum and natural historyCristina Has, Daniele Castiglia, Marcela del Rio, et al.
Glia|November 29, 2024
Single Cell Deletion of the Transcription Factors Trps1 and Sox9 in Astrocytes Reveals Novel Functions in the Adult Cerebral CortexPoornemaa Natarajan, Christina Koupourtidou, Thibault de Resseguier, et al.
Pageof 18

Showing results (111-120 of 174) with videos related to

Sort By:
Pageof 18
Dermatology (Basel, Switzerland)|July 30, 2002
Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), CroatiaA Bakija-Konsuo, A Basta-Juzbasic, I Rudan, 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.
Journal of the European Academy of Dermatology and Venereology : JEADV|November 4, 2022
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, et al.
Acta Dermato-Venereologica|January 25, 2021
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected SkinSabine Jägle, Hazem A Juratli, Geoffroy Hickman, et al.
The EMBO Journal|September 22, 2021
Molecular diversity of diencephalic astrocytes reveals adult astrogenesis regulated by Smad4Stefanie Ohlig, Solène Clavreul, Manja Thorwirth, et al.
Human Molecular Genetics|September 24, 2004
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1Meral Topçu, Florence Jobard, Sophie Halliez, et al.
The Journal of Investigative Dermatology|December 2, 2006
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, 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.
Human Mutation|September 22, 2011
Kindler syndrome: extension of FERMT1 mutational spectrum and natural historyCristina Has, Daniele Castiglia, Marcela del Rio, et al.
Glia|November 29, 2024
Single Cell Deletion of the Transcription Factors Trps1 and Sox9 in Astrocytes Reveals Novel Functions in the Adult Cerebral CortexPoornemaa Natarajan, Christina Koupourtidou, Thibault de Resseguier, et al.
Pageof 18