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1دورية أكاديمية
المؤلفون: Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
المصدر: Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
مصطلحات موضوعية: mevalonate diphosphate decarboxylase gene, porokeratosis plantaris, palmaris et disseminata, linear porokeratosis, mosaicism, second hit, loss of heterozygosity, Dermatology, RL1-803
وصف الملف: electronic resource
العلاقة: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3753Test; https://doaj.org/toc/0001-5555Test; https://doaj.org/toc/1651-2057Test
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2دورية أكاديمية
المؤلفون: Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
المصدر: Genes, Vol 12, Iss 11, p 1836 (2021)
مصطلحات موضوعية: FBN1, Marfan syndrome, apparently balanced chromosomal rearrangements (ABCR), optical genome mapping (OGM), gene disruption, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer
المصدر: Acta Dermato-Venereologica, Vol 100, Iss 4, p adv00064 (2020)
مصطلحات موضوعية: hereditary, palmoplantar keratodermas, unna-thost, vörner, keratin 1, keratinopathic ichthyosis, epidermolytic palmoplantar keratoderma, Dermatology, RL1-803
وصف الملف: electronic resource
العلاقة: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3419Test; https://doaj.org/toc/0001-5555Test; https://doaj.org/toc/1651-2057Test
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4دورية أكاديمية
المؤلفون: Sabine Jägle, Hauke Busch, Vivien Freihen, Sven Beyes, Monika Schrempp, Melanie Boerries, Andreas Hecht
المصدر: PLoS Genetics, Vol 13, Iss 11, p e1007109 (2017)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5714381?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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5دورية أكاديمية
المؤلفون: Susanne Elfert, Andreas Weise, Katja Bruser, Martin L Biniossek, Sabine Jägle, Niklas Senghaas, Andreas Hecht
المصدر: PLoS ONE, Vol 8, Iss 4, p e61867 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3626699?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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6
المؤلفون: Sabine Jägle, Hao-Hsiang Hsu, Hazem A Juratli, Andreas D Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
المصدر: British Journal of Dermatology. 188:94-99
مصطلحات موضوعية: Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::394dbbe6ea97f7c95d9659d3f606161cTest
https://doi.org/10.1093/bjd/ljac019Test -
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المؤلفون: Stephan Ehl, Klaus Warnatz, Nora Naumann-Bartsch, Anika Erxleben, Geoffroy Andrieux, Myriam Ricarda Lorenz, Robin Kobbe, Maximilian Heeg, Melanie Boerries, Gerd Horneff, Gregor Dückers, Stefan Schönberger, Klaus Schwarz, Julian Staniek, Jan Rohr, Andreas Mackensen, Hermann Eibel, Stephen Owens, Miriam Groß, Patrick Kury, Julian Thalhammer, Marita Führer, Andreas P. Frei, Pascal Schneider, Charlotte M. Niemeyer, Catharina Schütz, Carla N. Castro, Markus G. Seidel, Maria Elena Maccari, Ilka Fuchs, Simon Völkl, Friedrich G. Kapp, Marta Rizzi, Ursula Warthorst, R Kolb, Christian Klemann, Maurizio Miano, Tomas Kalina, Sebastian Fuchs, Rolf Backofen, Petr Smisek, Dirk Holzinger, Christoph König, Carsten Speckmann, Sabine Jägle, Arif B. Ekici, Bodo Grimbacher, Bertram Bengsch, Anne Rensing-Ehl
المصدر: The Journal of Experimental Medicine
The Journal of experimental medicine, vol. 218, no. 2, pp. e20192191مصطلحات موضوعية: Adult, CD4-Positive T-Lymphocytes, Male, Adolescent, medicine.medical_treatment, Immunology, Population, Medizin, chemical and pharmacologic phenomena, CD38, Biology, CD8-Positive T-Lymphocytes, Lymphocyte Activation, Article, Young Adult, Immune system, immune system diseases, medicine, Immunology and Allergy, Immunodeficiency, Humans, fas Receptor, education, Child, Aged, education.field_of_study, Infant, Newborn, Infant, hemic and immune systems, Middle Aged, medicine.disease, ADP-ribosyl Cyclase 1, Lymphoproliferative Disorders, Cell biology, Interleukin 10, Cytokine, Autoimmune lymphoproliferative syndrome, T cell differentiation, Child, Preschool, Leukocyte Common Antigens, Female, CD8, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11700627dab114dd095ef0baab6bc4e9Test
http://europepmc.org/articles/PMC7658692Test -
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المؤلفون: Barbara Herr, Anna Clara Schnause, Katalin Komlosi, Andreas Tzschach, Judith Fischer, Jürgen Neesen, Ekkehart Lausch, Thomas Schwarz, Sabine Jägle, Paul Dremsek, Birgitta Gläser
المصدر: Genes, Vol 12, Iss 1836, p 1836 (2021)
Genesمصطلحات موضوعية: musculoskeletal diseases, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Bacterial artificial chromosome, medicine.diagnostic_test, Breakpoint, Chromosome, Case Report, Chromosomal translocation, Chromosomal rearrangement, QH426-470, Biology, apparently balanced chromosomal rearrangements (ABCR), Marfan syndrome, optical genome mapping (OGM), Chromosome 15, Gene mapping, FBN1, medicine, gene disruption, Genetics (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e47e1f9c6139aed9f9b4cc4c885ad5Test
https://doi.org/10.3390/genes12111836Test -
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المؤلفون: L. Frommherz, Sabine Jägle, L. Miteva, L. Dourmishev, Judith Fischer, G. Grüninger, Cristina Has, M. Saleva‐Stateva, Kristin Technau-Hafsi
المصدر: The British journal of dermatologyReferences. 184(2)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Mutation (genetic algorithm), Mutation, medicine, Humans, Dermatology, medicine.disease, business, Porokeratosis, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6273789db8b1b1891c86507e8c2a415Test
https://pubmed.ncbi.nlm.nih.gov/32767669Test -
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المؤلفون: Sabine Jägle, Pinar Avci, Judith Fischer, Rudolf Happle, Hazem A. Juratli, Dario Didona
المصدر: Acta Dermato-Venereologica, Vol 100, Iss 4, p adv00064 (2020)
مصطلحات موضوعية: Plantar hyperkeratosis, medicine.medical_specialty, Hardware_MEMORYSTRUCTURES, business.industry, Biopsy, ComputingMilieux_PERSONALCOMPUTING, Dermatology, General Medicine, Middle Aged, lcsh:RL1-803, Diagnosis, Differential, InformationSystems_MODELSANDPRINCIPLES, Keratoderma, Palmoplantar, Mutation, medicine, ComputingMilieux_COMPUTERSANDEDUCATION, lcsh:Dermatology, Humans, Female, Genetic Predisposition to Disease, palmoplantar keratodermas, unna-thost, vörner, keratin 1, keratinopathic ichthyosis, epidermolytic palmoplantar keratoderma, business, Keratin-1, hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b253545cc318e0e387a2f4373a56444Test
https://doaj.org/article/b41aef3fd4d542d595fd228067b4c383Test