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1دورية 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 -
2تقرير
المؤلفون: Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
مصطلحات موضوعية: anemia, cholestasis, exocrine pancreatic insufficiency, GLIS3, megalocornea, neonatal diabetes
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33935973Test/; Splittstoesser, V. et al. (2021) ‘Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.’, Frontiers in endocrinology, 12, p. 665336. doi:10.3389/fendo.2021.665336.; https://rde.dspace-express.com/handle/11287/622029Test; Frontiers in endocrinology; PMC8087289
الإتاحة: https://doi.org/10.3389/fendo.2021.665336Test
https://rde.dspace-express.com/handle/11287/622029Test -
3دورية 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