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1دورية أكاديمية
المؤلفون: Sara Bohnstedt Mørup, Preston Leung, Cavan Reilly, Brad T. Sherman, Weizhong Chang, Maja Milojevic, Ana Milinkovic, Angelike Liappis, Line Borgwardt, Kathy Petoumenos, Roger Paredes, Shweta S. Mistry, Cameron R. MacPherson, Jens Lundgren, Marie Helleberg, Joanne Reekie, Daniel D. Murray, for the INSIGHT FIRST and START study groups
المصدر: AIDS Research and Therapy, Vol 21, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: HIV-1, Viral load, Pathway analysis, SKAT-O, Type 1 interferon, Host genetics, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1742-6405Test
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2دورية أكاديمية
المؤلفون: Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)
مصطلحات موضوعية: Whole genome sequencing, Clinical bioinformatics infrastructure, Variant filtering and interpretation, Functional variant testing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3دورية أكاديمية
المؤلفون: Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100014- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000146Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100003- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000031Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Simone Diedrichsen Marstrand, Charlotte Landbo Tofteng, Anne Jarløv, Line Borgwardt, Peter Schwarz
المصدر: Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
مصطلحات موضوعية: Primary hyperparathyroidism, FHH, MEN1, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1752-1947Test
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6دورية أكاديمية
المؤلفون: Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Line Borgwardt
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: structural variation analysis, primary immune deficiencies (PID), single nucleotide variant analysis, whole genome sequencing (WGS), reanalysis approach, whole exome sequencing, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.906328/fullTest; https://doaj.org/toc/1664-3224Test
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7دورية أكاديمية
المؤلفون: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Alpha-mannosidosis, Recombinant alpha-mannosidase, Velmanase alfa, Patient registry, Enzyme-replacement therapy, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01549-8Test; https://doaj.org/toc/1750-1172Test
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8دورية أكاديمية
المؤلفون: Ailsa Maria Main, Maria Rossing, Line Borgwardt, Birgitte Grønkær Toft, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen
المصدر: Endocrine Connections, Vol 9, Iss 8, Pp 793-803 (2020)
مصطلحات موضوعية: genotype, phenotype, ppgl, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://ec.bioscientifica.com/view/journals/ec/9/8/EC-20-0279.xmlTest; https://doaj.org/toc/2049-3614Test
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9دورية أكاديمية
المؤلفون: Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Morten Møller Poulsen, Filipe G. Vieira, Jes Sloth Mathiesen, Maria Rossing
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: multiple endocrine neoplasia type 2, medullary thyroid cancer, RET, Leu56Met, Genetics, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.764512/fullTest; https://doaj.org/toc/1664-2392Test
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10دورية أكاديمية
المؤلفون: Camilla Heldbjerg Drabe, Rasmus L. Marvig, Line Borgwardt, Jens D. Lundgren, Hanne Vibeke Hansen Maquart, Terese Lea Katzenstein, Marie Helleberg
المصدر: Frontiers in Immunology, Vol 11 (2020)
مصطلحات موضوعية: immunodeficiency, leishmaniasis, hyper IgM syndrome, genetics, diagnostic, whole genome sequencing, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2020.567856/fullTest; https://doaj.org/toc/1664-3224Test