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1دورية أكاديمية
المؤلفون: Anke M. de Leeuw, Reto Graf, Pei Jin Lim, Jianhua Zhang, Gian Nutal Schädli, Sheila Peterhans, Marianne Rohrbach, Cecilia Giunta, Matthias Rüger, Marina Rubert, Ralph Müller
المصدر: Frontiers in Bioengineering and Biotechnology, Vol 12 (2024)
مصطلحات موضوعية: cell-laden scaffold, cell density, 3D bioprinting, dynamic culture, time-lapsed micro-CT, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fbioe.2024.1310289/fullTest; https://doaj.org/toc/2296-4185Test
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2دورية أكاديمية
المؤلفون: Susanne Wehrli, Marianne Rohrbach, Markus Andreas Landolt
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-20 (2023)
مصطلحات موضوعية: Osteogenesis imperfecta, Rare disease, Quality of life, Pediatrics, Adult, Physical health, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Marianne Rohrbach, Cecilia Giunta
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: osteogenesis imperfecta (OI), extracellular matrix (ECM), fatty acid metabolism, X-linked, site-2 protease, MBTPS2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1195704/fullTest; https://doaj.org/toc/1664-2392Test
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4دورية أكاديمية
المؤلفون: Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer
المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100876- (2022)
مصطلحات موضوعية: Health-related quality of life, Caregiver burden, Disease severity, Inborn errors of metabolism, Organic acidurias, Urea cycle disorders, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000362Test; https://doaj.org/toc/2214-4269Test
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5دورية أكاديمية
المؤلفون: Maurice Roeder, Sira Thiel, Frederic Baumann, Noriane A. Sievi, Marianne Rohrbach, Malcolm Kohler, Thomas Gaisl
المصدر: BMC Cardiovascular Disorders, Vol 20, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Ehlers-Danlos syndrome, Arterial stiffness, Augmentation index, Cardiovascular risk, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12872-020-01684-xTest; https://doaj.org/toc/1471-2261Test
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6دورية أكاديمية
المؤلفون: Florian B. Lagler, Angelika Moder, Marianne Rohrbach, Julia Hennermann, Eugen Mengel, Seyfullah Gökce, Thomas Hundsberger, Kai M. Rösler, Nesrin Karabul, Martina Huemer
المصدر: JIMD Reports, Vol 49, Iss 1, Pp 89-95 (2019)
مصطلحات موضوعية: Pompe disease, diagnostic odyssey, diagnostic delay, expert centers, initial symptoms, patient perspective, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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7دورية أكاديمية
المؤلفون: Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srikanthan, Martin Poms, Martin Hersberger, Claus-Dieter Langhans, Dorothea Haas, Marianne Rohrbach, Cecilia Giunta
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: X-linked osteogenesis imperfecta, connective tissue, transcriptomics, MBTPS2, site 2 protease, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.662751/fullTest; https://doaj.org/toc/1664-8021Test
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8دورية أكاديمية
المؤلفون: Elisa Bombardieri, Marianne Rohrbach, Matthias Greutmann, Gabor Matyas, Roland Weber, Jovana Radulovic, Margrit Fasnacht Boillat, André Linka, Gabriella De Pasquale, Francesca Bonassin, Christine H. Attenhofer Jost
المصدر: Swiss Medical Weekly, Vol 150, Iss 1314 (2020)
مصطلحات موضوعية: Marfan syndrome, connective tissue disorders, Loeys-Dietz syndrome, genetic testing in Marfan syndrome and related conditions, Medicine
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Christina T. Rüsch, Ursula Knirsch, Daniel M. Weber, Marianne Rohrbach, André Eichenberger, Jürg Lütschg, Kirsten Weber, Philip J. Broser, Georg M. Stettner
المصدر: Children, Vol 8, Iss 8, p 624 (2021)
مصطلحات موضوعية: carpal tunnel syndrome, median nerve neuropathy, electrodiagnostic studies, neuromuscular ultrasound, mucopolysaccharidosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert, Wolfgang Berger
المصدر: Genes, Vol 12, Iss 1, p 65 (2021)
مصطلحات موضوعية: whole-exome sequencing, microphthalmia, coloboma, genetic screening, MAC, ocular development, Genetics, QH426-470
وصف الملف: electronic resource