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

الإتاحة: https://doi.org/10.1186/s12876-022-02346-2Test

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

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

الإتاحة: https://doi.org/10.3390/jcm10030481Test
http://hdl.handle.net/10400.16/2744Test

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

الإتاحة: https://doi.org/10.3389/fendo.2021.665336Test

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

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

الإتاحة: https://doi.org/10.1136/gutjnl-2015-310382Test

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

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

المؤلفون: Sukalo, Maja, Fiedler, Ariane, Guzman, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Benavent, Manuel Oltra, 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, Debora Romeo, van Karnebeek, Clara D. M., Bergmann, Carsten, Liu, Zhifeng, Dueker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Ogur, Gonul, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Ozgur, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Cresio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, Zenker, Martin

المصدر: Human Mutation. 35(5):521-531

مصطلحات موضوعية: Johanson-Blizzard syndrome, UBR1, exocrine pancreatic insufficiency, aplasia of alae nasi, cognitive impairment

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-90779Test

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

العلاقة: https://freidok.uni-freiburg.de/data/130134Test

الإتاحة: https://doi.org/10.1210/jc.2015-3382Test
https://freidok.uni-freiburg.de/data/130134Test