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1دورية أكاديمية
المؤلفون: Akkaya, Federica, Babka, Christine, Bannert, Lisa, Bärsch-Michelmann, Anja, Böhm, Leonie, Brinkmann, Folke, Bullinger, Monika, Cario, Holger, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Eymann, Jutta, Frisch, Julia, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Haas, Astrid, Haisch, Lea, Isabell, Heinrich, Held, Melissa, Hennermann, Julia, Herpertz, Stephan, Herrmann-Werner, Anne, Hett, Julian, Heuschmann, Peter, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Junne, Florian, Kassubek, Jan, Koschitzki, Kevin-Thomas, Krassort, Heike, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Ludolph, Albert C., Meyer, Torsten, Meyer dos Santos, Isabell, Mohnike, Klaus, Monninger, Martina, Mücke, Martin, Müller, Susanne, Musacchio, Thomas, Nießen, Margret, Nöhre, Mariel, Ott, Stephan, Petermann-Meyer, Andrea, Pfeifer-Duck, Christina, Piduhn, Lea-Sophie, Rampp, Carina, Rieß, Olaf, Schaubert, Kristina, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Ungethüm, Kathrin, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Wagner, Thomas O.F., Walter, Sabrina, Warrings, Bodo, Zajt, Kamil, Zenker, Karola, Zhang, David, Zipfel, Stephan, Hebestreit, Helge, Lapstich, Anne-Marie, Brandstetter, Lilly, Krauth, Christian, Deckert, Jürgen, Haas, Kirsten, Pfister, Lisa, Witt, Stefanie, Schippers, Christopher, Dieris-Hirche, Jan, Maisch, Tim, Tüscher, Oliver, Bârlescu, Lavinia Aurelia, Berger, Alexandra, Berneburg, Mark, Britz, Vanessa, Deibele, Anna, Graeßner, Holm, Gündel, Harald, Heuft, Gereon, Lücke, Thomas, Mundlos, Christine, Quitmann, Julia Hannah, Rutsch, Frank, Schubert, Katharina, Schulz, Jörg B., Schweiger, Susann, Zeidler, Cornelia, Zeltner, Lena Margarete, de Zwaan, Martina, Bârlescu, Lavinia, Quitmann, Julia, Schulz, Jörg Bernhard, Zeltner, Lena
المصدر: In eClinicalMedicine November 2023 65
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2Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10
المؤلفون: Kurz, Bernadett, Koschitzki, Kevin-Thomas, Hehr, Ute, Germer, Ute, Schreml, Julia, Langhammer, Florian, Schreml, Stephan
المصدر: JAAD Case Rep
مصطلحات موضوعية: ddc:610, congenital ichthyosiform erythroderma filaggrin (FLG) gene keratin 10 (KRT10) gene keratinopathic ichthyoses, 610 Medizin, Case Report, Dermatology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1216784e3bc428b074613551269bca02
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3
المؤلفون: Helge, Hebestreit, Cornelia, Zeidler, Christopher, Schippers, Martina, de Zwaan, Jürgen, Deckert, Peter, Heuschmann, Christian, Krauth, Monika, Bullinger, Alexandra, Berger, Mark, Berneburg, Lilly, Brandstetter, Anna, Deibele, Jan, Dieris-Hirche, Holm, Graessner, Harald, Gündel, Stephan, Herpertz, Gereon, Heuft, Anne-Marie, Lapstich, Thomas, Lücke, Tim, Maisch, Christine, Mundlos, Andrea, Petermann-Meyer, Susanne, Müller, Stephan, Ott, Lisa, Pfister, Julia, Quitmann, Marcel, Romanos, Frank, Rutsch, Kristina, Schaubert, Katharina, Schubert, Jörg B, Schulz, Susann, Schweiger, Oliver, Tüscher, Kathrin, Ungethüm, Thomas O F, Wagner, Kirsten, Haas, Stephan, Zipfel
المساهمون: Rampp, Carina, Richter, Antonia, Rieß, Olaf, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Spangenberger, Astrid, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Walter, Sabrina, Warrings, Bodo, Weiler, Christine, Witt, Stefanie, Zajt, Kamil Kajetan, Zeltner, Lena, Zenker, Karola, Zhang, Kailun David, Zipfel, Stephan, Akkaya, Federica, Babka, Christine, Bârlescu, Lavinia, Bärsch-Michelmann, Anja, Bergbreiter, Astrid, Blömeke, Janika, Böhm, Leonie, Böttger, Benita, Braun, Birgit, Brinkmann, Folke, Britz, Vanessa, Cario, Holger, Celiker, Melisa, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Ertl, Max, Ettinger, Monika, Eymann, Jutta, Frommer, Jörg, Gabrian, Martina, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Greger, Helmut, Haas, Astrid, Haase, Martina, Haisch, Lea, Heinrich, Isabel, Held, Melissa, Hennermann, Julia, Herrmann-Werner, Anne, Hett, Julian, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Jacob, Titus, Junne, Florian, Karl, Stefanie, Kassubek, Jan, Kick, Lisa, Koschitzki, Kevin-Thomas, Krassort, Heike, Kratz, Christian, Kristensen, Kaja, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Lorenz, Delia, Ludolph, Albert C., Dos Santos, Isabell Meyer, Meyer, Torsten, Mohnike, Klaus, Monninger, Martina, Musacchio, Thomas, Nanciu, Amalia Nicole, Nießen, Margret, Nöhre, Mariell, Papagianni, Aikaterini, Pfeifer-Duck, Christina, Piduhn, Lea-Sophie
المصدر: Orphanet journal of rare diseases : OJRD 17(1), 47 (2022). doi:10.1186/s13023-022-02176-1
مصطلحات موضوعية: Protocol (science), medicine.medical_specialty, ddc:618, business.industry, General Medicine, DUAL (cognitive architecture), Cohort Studies, Diagnosis, Differential, Rare Diseases, Treatment Outcome, Quality of Life, Humans, Multicenter Studies as Topic, Medicine, Pharmacology (medical), Medical physics, Center (algebra and category theory), Prospective Studies, Child, business, Genetics (clinical), Cohort study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba62672e4580218d7990ff2cc43937a5
https://doi.org/10.21203/rs.3.rs-936612/v1 -
4تقرير
المؤلفون: Kurz B; Department of Dermatology, University Hospital Regensburg, Regensburg, Germany., Koschitzki KT; Department of Dermatology, University Hospital Regensburg, Regensburg, Germany., Hehr U; Institute of Human Genetics, University Hospital Regensburg, Regensburg, Germany., Germer U; Department of Gynecology and Obstetrics, Caritas Hospital St. Josef, Regensburg, Germany., Schreml J; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany., Langhammer F; Department of Neonatology, University Children's Hospital Regensburg (KUNO), Hospital St. Hedwig of the Order of St. John, University Hospital Regensburg, Regensburg, Germany., Schreml S; Department of Dermatology, University Hospital Regensburg, Regensburg, Germany.
المصدر: JAAD case reports [JAAD Case Rep] 2023 Mar 18; Vol. 35, pp. 74-76. Date of Electronic Publication: 2023 Mar 18 (Print Publication: 2023).
نوع المنشور: Case Reports
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101665210 Publication Model: eCollection Cited Medium: Print ISSN: 2352-5126 (Print) Linking ISSN: 23525126 NLM ISO Abbreviation: JAAD Case Rep Subsets: PubMed not MEDLINE