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1دورية أكاديمية
المؤلفون: Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park, Cordula Westermann, Yoshinao Wada, Oliver Schwartz, Thorsten Marquardt
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 42-55 (2021)
مصطلحات موضوعية: MAN1B1‐CDG, disulfiram, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2
المؤلفون: Sophia Gunzer, Andreas Kraus, Thorsten Marquardt, Janine Reunert, Saskia Biskup, Inka Buchroth, Inga Grünewald, Cordula Westermann, Marianne Grüneberg
المصدر: Liver International. 41:2427-2432
مصطلحات موضوعية: Liver Cirrhosis, Pathology, medicine.medical_specialty, Medizin, Fibrosis, alpha 1-Antitrypsin Deficiency, Eosinophilic, medicine, Humans, Secretion, Child, Haptoglobins, Hepatology, medicine.diagnostic_test, biology, business.industry, Endoplasmic reticulum, Homozygote, Haptoglobin, food and beverages, medicine.disease, Pathophysiology, Liver, Liver biopsy, Hepatocytes, biology.protein, Elevated transaminases, Female, business
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3
المؤلفون: Lisa, Kemme, Marianne, Grüneberg, Janine, Reunert, Stephan, Rust, Julien, Park, Cordula, Westermann, Yoshinao, Wada, Oliver, Schwartz, Thorsten, Marquardt
المصدر: JIMD Reports
مصطلحات موضوعية: Research Report, MAN1B1‐CDG, disulfiram, Research Reports
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4
المؤلفون: Artem Shaposhnykov, Gerard W. Dougherty, Lea Bentur, Virginia Mirra, Julia Wallmeier, Martina Brueckner, Kavita Praveen, Heike Olbrich, Sara Kashef, Yasin Memari, Pekka Valmari, Heymut Omran, Claudius Werner, Mohammad Amin Kashef, Erica E. Davis, Bernd Dworniczak, Niki T. Loges, Christian Ruckert, Karsten Häffner, Johanna Raidt, Nicholas Katsanis, Micha Aviram, Gaia Pigino, Israel Amirav, Cordula Westermann, Anja Kolb-Kokocinski, Gyorgy Baktai, Tabea Menchen, Fardin Eghtedari, Judith A. Klinkenbusch, Rim Hjeij, Petra Pennekamp, Richard Durbin
المصدر: American Journal of Respiratory Cell and Molecular Biology. 55:213-224
مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Mucociliary clearance, Clinical Biochemistry, Dynein, Context (language use), Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cilia, Lung, Molecular Biology, Original Research, Primary ciliary dyskinesia, Base Sequence, Kartagener Syndrome, Cilium, Homozygote, Dyneins, Axonemal Dyneins, Cell Biology, medicine.disease, Cell biology, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, 030228 respiratory system, Mutation, Outer dynein arm
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5
المؤلفون: Christopher O'Callaghan, Claudius Werner, Ian M. Carr, Eamonn Sheridan, Nicholas F.C. Morante, Christopher M. Watson, You Li, Rebecca D. Burdine, Stef J.F. Letteboer, George C. Gabriel, Małgorzata Kurkowiak, Hannah M. Mitchison, Nikolai Klena, Cordula Westermann, Christopher E. Slagle, June K. Marthin, Eduardo Moya, Petra Pennekamp, Kristi Lemke, Dorus A. Mans, Alexandros Onoufriadis, Rim Hjeij, Niki T. Loges, Tabea Menchen, Kim G. Nielsen, Cecilia W. Lo, Ronald Roepman, Christine P. Diggle, E. M K Chung, Thomas Burgoyne, Heymut Omran, Gerard W. Dougherty, Andrew Rutman
المصدر: Cilia
مصطلحات موضوعية: Sanger sequencing, Genetics, Cilium, Cell Biology, Biology, Gene mutation, medicine.disease, Ciliopathy, symbols.namesake, Poster Presentation, medicine, symbols, Motile cilium, Outer dynein arm, Exome sequencing, Primary ciliary dyskinesia