-
1دورية أكاديمية
المؤلفون: Kaczmarek, Dominik J., Heling, Dominik J., Strassburg, Christian P., Katzer, David, Düker, Gesche, Strohm, Joanna, Müller, Andreas, Heydweiller, Andreas, Weismüller, Tobias J.
المساهمون: Rheinische Friedrich-Wilhelms-Universität Bonn
المصدر: BMC Gastroenterology ; volume 22, issue 1 ; ISSN 1471-230X
مصطلحات موضوعية: Gastroenterology, General Medicine
-
2دورية أكاديمية
المؤلفون: Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.
مصطلحات موضوعية: congenital diarrheal diseases, enteropathy, microvillus inclusion disease, MYO5B, myosin Vb, progressive familial intrahepatic cholestasis, PFIC, genotype–phenotype correlation, lack of protein, tail domain, DDC 610 / Medicine & health, Diarrhea, Cholestasis, Myosins, Kontraktile Proteine, Cholestase, Durchfall, Myosin
وصف الملف: application/pdf
العلاقة: https://www.mdpi.com/2077-0383/10/3/481/s1Test; http://dx.doi.org/10.18725/OPARU-43530Test; https://oparu.uni-ulm.de/xmlui/123456789/43606Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test
الإتاحة: https://doi.org/10.18725/OPARU-43530Test
https://oparu.uni-ulm.de/xmlui/123456789/43606Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test -
3دورية أكاديمية
المؤلفون: Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.
مصطلحات موضوعية: YO5B, PFIC, congenital diarrheal diseases, enteropathy, genotype–phenotype correlation, lack of protein, microvillus inclusion disease, myosin Vbin, progressive familial intrahepatic cholestasis, tail domain
العلاقة: https://www.mdpi.com/2077-0383/10/3/481Test; Aldrian D, Vogel GF, Frey TK, et al. Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. J Clin Med. 2021;10(3):481. doi:10.3390/jcm10030481; http://hdl.handle.net/10400.16/2744Test
-
4دورية أكاديمية
المؤلفون: Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
المصدر: Frontiers in Endocrinology ; volume 12 ; ISSN 1664-2392
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
-
5دورية أكاديمية
المؤلفون: Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
المصدر: Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H; Shah, Neil; Patel, Smita Y; Booth, Claire; Runz, Heiko; Düker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M; Koletzko, Sibylle; Xavier, Ramnik J; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E; Gyrd-Hansen, Mads; Platt, Frances M; Uhlig, Holm H (2017). Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. Gut, 66(6):1060-1073.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/132713/1/ZORA132713.pdfTest; info:pmid/26953272; urn:issn:0017-5749
الإتاحة: https://doi.org/10.5167/uzh-13271310.1136/gutjnl-2015-310382Test
https://www.zora.uzh.ch/id/eprint/132713Test/
https://www.zora.uzh.ch/id/eprint/132713/1/ZORA132713.pdfTest -
6دورية أكاديمية
المؤلفون: Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
المصدر: Gut ; volume 66, issue 6, page 1060-1073 ; ISSN 0017-5749 1468-3288
-
7دورية أكاديمية
المؤلفون: Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
المصدر: Frontiers in Endocrinology; 4/16/2022, Vol. 13, p1-7, 7p
مصطلحات موضوعية: EXOCRINE pancreatic insufficiency, CONGENITAL hypothyroidism, SYMPTOMS, PANCREATIC enzymes, DEFICIENCY diseases, FETAL hemoglobin, SYNDROMES
-
8دورية أكاديمية
المؤلفون: Düker, Gesche, Lentze, Michael J., Zielen, Stefan
المصدر: Archives of Pediatrics & Adolescent Medicine ; volume 155, issue 10, page 1169 ; ISSN 1072-4710
الإتاحة: https://doi.org/10.1001/archpedi.155.10.1169Test
https://archpedi.jamanetwork.com/ama/content_public/journal/peds/4673/ppm0014.pdfTest -
9دورية أكاديمية
المؤلفون: Schreiner, Felix, Plamper, Michaela, Dueker, Gesche, Schönberger, Stefan, Gamez-Diaz, Laura Yaneth, Grimbacher, Bodo, Hilger, Alina C., Gohlke, Bettina, Reutter, Heiko, Wölfle, Joachim
المصدر: The Journal of Clinical Endocrinology & Metabolism. - 101, 3 (2016) , 898-904, ISSN: 0021-972X
-
10دورية أكاديمية
المؤلفون: Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, McHeik, Jiad N, Oltra Benavent, Manuel, Cobben, Jan M, Gillis, Lynette A, Shealy, Amy G, Deshpande, Charu, Bozorgmehr, Bita, Everman, David B, Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Bertola, Débora Romeo, van Karnebeek, Clara D M, Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S, O?ur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A, Verbeek, Nienke E, Richmond, Erick J, Kirbiyik, Ozgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A M, Alves, Crésio, Mayerle, Julia, Lerch, Markus M, Witt, Heiko, Zenker, Martin
المساهمون: Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
مصطلحات موضوعية: info:eu-repo/classification/ddc