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1
المؤلفون: Dulce Lima Cunha, Verena Moosbrugger-Martinz, Sarah Hedtrich, Guy Yealland, Sari Thomforde, Roswitha Plank, Patrick Graff, Marcelo Calderón, Enrico Miceli, Hans Christian Hennies, Katja Martina Eckl, Robert Gruber
المصدر: Journal of Investigative Dermatology. 139:1191-1195
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Tissue transglutaminase, Administration, Topical, Genes, Recessive, Dermatology, Disease, Biochemistry, Sampling Studies, Equivalent, Congenital ichthyosis, Full thickness skin, Humans, Medicine, Genetic Predisposition to Disease, Molecular Biology, Transglutaminases, biology, business.industry, Ichthyosis, Biopsy, Needle, Cell Biology, Enzyme replacement therapy, Prognosis, medicine.disease, Immunohistochemistry, Phenotype, Treatment Outcome, Mutation, biology.protein, Female, business, Ichthyosis, Lamellar
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59aa2632dada56f71f4901171e1b86b
https://doi.org/10.1016/j.jid.2018.11.002 -
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المؤلفون: Holger Thiele, A. Udvardi, Robert Gruber, A. Weiss, Matthias Schmuth, Beatrix Volc-Platzer, Peter Nürnberg, Katja Martina Eckl, Johannes Zschocke, Hans Christian Hennies, G. Rainer, R. Schupart
المصدر: British Journal of Dermatology. 176:1068-1073
مصطلحات موضوعية: 0301 basic medicine, Transepidermal water loss, Pathology, medicine.medical_specialty, integumentary system, RL, Hyperkeratosis, Dermatology, Biology, Lamellar granule, Lamellar ichthyosis, medicine.disease, QH301, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, CYP4F22, Collodion, Congenital ichthyosis, medicine, Netherton syndrome, QH426
وصف الملف: application/pdf
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3Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling
المؤلفون: Jerzy-Roch Nofer, Mi-Ran Kim, Kira Süßmuth, Vinzenz Oji, Ingrid Hausser, F. Valentin, Katja Martina Eckl, Judith Fischer, Alberto Sánchez-Guijo, Hans Christian Hennies, Heiko Traupe, Stefan A. Wudy, Laura Kerschke
المساهمون: Selbsthilfe Ichthyose, University of Münster, German Research Foundation
المصدر: Acta Dermato-Venereologica, Vol 101, Iss 9, p adv00546 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: medicine.medical_specialty, Congenital ichthyosiform erythroderma, Dermatology, Gastroenterology, vitamin D deficiency, Internal medicine, medicine, Vitamin D and neurology, Humans, Netherton syndrome, Vitamin D, Parathyroid hormone, Vitamin D deficiency, business.industry, Ichthyosis, General Medicine, Harlequin Ichthyosis, Lamellar ichthyosis, Vitamin D Deficiency, medicine.disease, Parathyroid Hormone, RL1-803, business, Ichthyosis, Lamellar, Ichthyosis vulgaris
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6edb6315fa577ae8d8ec79bbf26658e0
https://doi.org/10.2340/00015555-3887 -
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المؤلفون: Sebastian Fuchs, Ingeborg Krägeloh-Mann, Katja Martina Eckl, Kai Lehmberg, Ansgar Schulz, Julia Bank, Gillian M. Griffiths, Peter Nürnberg, Roswitha Plank, Udo zur Stadt, Klaus Niethammer, Stephan Ehl, Holger Thiele, Hans Christian Hennies, Sandra Ammann, Horst von Bernuth, Nele M. G. Dieckmann, Roland Werner, Janine Altmüller, Samantha Grieve, Anne Strauss
المساهمون: Ehl, Stephan [0000-0002-9265-2721], Apollo - University of Cambridge Repository
المصدر: Blood
مصطلحات موضوعية: 0301 basic medicine, Adaptor Protein Complex 3, Immunology, Fluorescent Antibody Technique, Biology, Transfection, medicine.disease_cause, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Seizures, medicine, Humans, Exome sequencing, Immunodeficiency, Genetics, Mutation, Platelet storage pool deficiency, Immunologic Deficiency Syndromes, Cell Biology, Hematology, medicine.disease, Null allele, Adaptor Protein Complex delta Subunits, 030104 developmental biology, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Albinism, Electrophoresis, Polyacrylamide Gel, Hermansky–Pudlak syndrome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024db1953f651af41af9fcdebf493a84
https://doi.org/10.1182/blood-2015-09-671636 -
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المؤلفون: Dietmar Müller, Marie-Luise Preil, Ingrid Hausser, Susanne Brodesser, Aysel Onal-Akan, Rotem Tidhar, Peter Nürnberg, Ramona Casper, Katja Martina Eckl, Janine Altmüller, Gudrun Nürnberg, Hans Christian Hennies, Friedrich Stock, Heiko Traupe, Kerstin Becker, Anthony H. Futerman, Vinzenz Oji, Holger Thiele
المصدر: Journal of Investigative Dermatology. 133:2202-2211
مصطلحات موضوعية: Keratinocytes, Male, Biochemistry, Mice, chemistry.chemical_compound, Sphingosine N-Acyltransferase, Congenital ichthyosis, Keratin, Missense mutation, Exome, Child, Cells, Cultured, Barrier function, chemistry.chemical_classification, integumentary system, biology, Ichthyosis, Homozygote, Ceramide synthase 3, Pedigree, Cell biology, Phenotype, medicine.anatomical_structure, Child, Preschool, Female, medicine.medical_specialty, Ceramide, Mutation, Missense, Genes, Recessive, Dermatology, Ceramides, Internal medicine, medicine, Stratum corneum, Animals, Humans, Molecular Biology, Family Health, Infant, Newborn, Cell Biology, Fibroblasts, medicine.disease, Molecular Weight, Disease Models, Animal, Endocrinology, Epidermal Cells, chemistry, biology.protein, Epidermis, Ichthyosis, Lamellar
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المؤلفون: Guy Yealland, Katja Obst, Hans Christian Hennies, Marcelo Calderón, Katja Martina Eckl, Roswitha Plank, Sarah Hedtrich
المصدر: Proceedings of the World Congress on Recent Advances in Nanotechnology.
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Protein replacement therapy, Internal medicine, Congenital ichthyosis, medicine, business, Nanogel
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f826a0561a3c25a018857a3dcb161126
https://doi.org/10.11159/nddte16.105 -
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المؤلفون: Akemi Ishida-Yamamoto, Ofer Sarig, Katja Martina Eckl, Meri Gini, Dana Fuchs, Andrea Gat, Amos Gilhar, Miri Bidder, Ilan Goldberg, Irina Filip, Claes D. Enk, Nadav Sagiv, Eli Sprecher, Hans Christian Hennies, Daniel Aberdam, Benny Meilik, Hagit Matz, Janna Nousbeck
المصدر: Journal of Investigative Dermatology. 131:1767-1770
مصطلحات موضوعية: Keratinocytes, Organ Culture Technique, medicine.medical_specialty, Letter to the editor, IGFBP7, Transplantation, Heterologous, Dermatology, Biochemistry, Insulin-like growth factor-binding protein, Mice, 03 medical and health sciences, Organ Culture Techniques, 0302 clinical medicine, Psoriasis, medicine, Animals, Humans, RNA, Small Interfering, Molecular Biology, Cells, Cultured, 030304 developmental biology, 0303 health sciences, biology, business.industry, Extramural, Cell Biology, medicine.disease, 3. Good health, Insulin-Like Growth Factor Binding Proteins, Transplantation, Epidermal Cells, 030220 oncology & carcinogenesis, biology.protein, Epidermis, business
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المؤلفون: Ramona Casper, Katja Martina Eckl, Hans Christian Hennies, Monika Schäfer-Korting, Michał R. Radowski, Sarah Küchler, Rainer Haag, Günther Weindl, Katharina Ackermann
المصدر: Experimental Dermatology. 23:286-288
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Epidermal barrier, business.industry, Nile red, Dermatology, Penetration (firestop), Biochemistry, ALOXE3, chemistry.chemical_compound, chemistry, Congenital ichthyosis, medicine, Nanocarriers, business, Molecular Biology, Barrier function, Cutaneous absorption
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المؤلفون: Katja Martina Eckl
المصدر: The British journal of dermatology. 171(6)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Disease Models, Animal, Tissue engineering, business.industry, Congenital ichthyosis, medicine, Animals, Dermatology, business, Ichthyosis, Lamellar
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المؤلفون: Georg Stingl, Anna Schossig, K. Jahn-Bassler, Katja Martina Eckl, Robert Gruber, A Jalili, Johannes Zschocke, Verena Moosbrugger-Martinz, Hans Christian Hennies, Matthias Schmuth
المصدر: The British journal of dermatology. 172(6)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Hyperkeratosis, Dermatology, Hand Dermatoses, Biology, Lamellar granule, Diagnosis, Differential, Microscopy, Electron, Transmission, Keratin, medicine, Humans, Netherton syndrome, Cystatin A, chemistry.chemical_classification, Foot Dermatoses, Ichthyosis, Homozygote, Skin Diseases, Genetic, medicine.disease, LEKTI, chemistry, Netherton Syndrome, Mutation, Epidermis, Immunostaining