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1دورية أكاديمية
المؤلفون: Yu, Qiujun, Tai, Yi-Yin, Tang, Ying, Zhao, Jingsi, Negi, Vinny, Culley, Miranda K, Pilli, Jyotsna, Sun, Wei, Brugger, Karin, Mayr, Johannes, Saggar, Rajeev, Saggar, Rajan, Wallace, W Dean, Ross, David J, Waxman, Aaron B, Wendell, Stacy G, Mullett, Steven J, Sembrat, John, Rojas, Mauricio, Khan, Omar F, Dahlman, James E, Sugahara, Masataka, Kagiyama, Nobuyuki, Satoh, Taijyu, Zhang, Manling, Feng, Ning, Gorcsan, John, Vargas, Sara O, Haley, Kathleen J, Kumar, Rahul, Graham, Brian B, Langer, Robert, Anderson, Daniel G, Wang, Bing, Shiva, Sruti, Bertero, Thomas, Chan, Stephen Y
المصدر: Circulation. 139(19)
مصطلحات موضوعية: Lung, Genetics, Nutrition, 2.1 Biological and endogenous factors, Aetiology, Cardiovascular, Adolescent, Adult, Animals, Cell Respiration, Cells, Cultured, Child, Child, Preschool, Disease Models, Animal, Endothelium, Vascular, Female, Glycine, Humans, Hypertension, Pulmonary, Infant, Iron-Sulfur Proteins, Male, Mice, Mice, Inbred C57BL, Mitochondrial Proteins, Mutation, Oxidation-Reduction, RNA, Small Interfering, Young Adult, endothelium, glycine, hypertension, pulmonary, mitochondria, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8ks25518Test
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2دورية أكاديمية
المؤلفون: Achleitner, Melanie T, Jans, Judith J M, Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G, Brugger, Karin, Mayr, Doris, Wevers, Ron A, Thiel, Christian, Wortmann, Saskia B, Mayr, Johannes A
المساهمون: Genetica Sectie Metabole Diagnostiek, Brain, Child Health
مصطلحات موضوعية: PPA1, galactose, galactosemia, hyperbilirubinemia, inborn metabolic disorder, pyrophosphate, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang
مصطلحات موضوعية: Bone fragility, Type I collagen, Osteogenesis imperfecta, Cryptic splice site, Mutation, Whole exome sequencing
جغرافية الموضوع: vls-obvuli-3396396
وصف الملف: text/html
العلاقة: vignette : https://epub.jku.at/titlepage/urn/urn:nbn:at:at-ubl:3-18514/128Test; urn:nbn:at:at-ubl:3-18514; https://resolver.obvsg.at/urn:nbn:at:at-ubl:3-18514Test; local:99147385653503331; system:AC16848895
الإتاحة: https://doi.org/10.1016/j.bonr.2021.101110Test
https://resolver.obvsg.at/urn:nbn:at:at-ubl:3-18514Test -
4دورية أكاديمية
المؤلفون: Feichtinger, René G, Hüllen, Andreas, Koller, Andreas, Kotzot, Dieter, Grote, Valerian, Rapp, Erdmann, Hofbauer, Peter, Brugger, Karin, Thiel, Christian, Mayr, Johannes A, Wortmann, Saskia B
المساهمون: Oesterreichische Nationalbank, Deutsche Forschungsgemeinschaft, Austrian Science Fund
المصدر: EMBO Molecular Medicine ; volume 13, issue 9 ; ISSN 1757-4676 1757-4684
مصطلحات موضوعية: Molecular Medicine
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5دورية أكاديمية
المؤلفون: El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang
المصدر: Bone Reports ; volume 15, page 101110 ; ISSN 2352-1872
مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.bonr.2021.101110Test
https://api.elsevier.com/content/article/PII:S2352187221003661?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352187221003661?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Rymen, Daisy, Lindhout, Martijn, Spanou, Maria, Ashrafzadeh, Farah, Benkel, Ira, Betzler, Cornelia, Coubes, Christine, Hartmann, Hans, Kaplan, Julie D., Ballhausen, Diana, Koch, Johannes, Lotte, Jan, Mohammadi, Mohammad Hasan, Rohrbach, Marianne, Dinopoulos, Argirios, Wermuth, Marieke, Willis, Daniel, Brugger, Karin, Wevers, Ron A., Boltshauser, Eugen, Bierau, Jorgen, Mayr, Johannes A., Wortmann, Saskia B.
المصدر: Rymen , D , Lindhout , M , Spanou , M , Ashrafzadeh , F , Benkel , I , Betzler , C , Coubes , C , Hartmann , H , Kaplan , J D , Ballhausen , D , Koch , J , Lotte , J , Mohammadi , M H , Rohrbach , M , Dinopoulos , A , Wermuth , M , Willis , D , Brugger , K , Wevers , R A , Boltshauser , E , Bierau , J , Mayr , J A & Wortmann , S B 2020 , ' ....
مصطلحات موضوعية: anemia, epilepsy, developmental delay, early infantile epileptic encephalopathy-50, EIEE, MUTATIONS, ACIDURIA, BRAIN
الإتاحة: https://doi.org/10.1038/s41436-020-0933-zTest
https://cris.maastrichtuniversity.nl/en/publications/6a710d7a-e076-444b-a0c6-01f4af97ee65Test -
7دورية أكاديمية
المؤلفون: Feichtinger, René G., Preisel, Martin, Brugger, Karin, Wortmann, Saskia B., Mayr, Johannes A.
المصدر: Genes; Jun2023, Vol. 14 Issue 6, p1217, 9p
مصطلحات موضوعية: AUTISM spectrum disorders, AUTISM, ALTERNATIVE RNA splicing, NEURAL development, DEVELOPMENTAL delay, CELL adhesion
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8دورية أكاديمية
المؤلفون: Feichtinger, René G., Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B., Mayr, Johannes A.
المصدر: Genes; Dec2022, Vol. 13 Issue 12, p2191, 6p
مصطلحات موضوعية: NEURAL development, CHROMOSOMES, GENETIC variation, GROWTH disorders, ZINC-finger proteins
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9دورية أكاديمية
المؤلفون: Rymen, Daisy, Lindhout, Martijn, Spanou, Maria, Ashrafzadeh, Farah, Benkel, Ira, Betzler, Cornelia, Coubes, Christine, Hartmann, Hans, Kaplan, Julie D, Ballhausen, Diana, Koch, Johannes, Lotte, Jan, Mohammadi, Mohammad Hasan, Rohrbach, Marianne, Dinopoulos, Argirios, Wermuth, Marieke, Willis, Daniel, Brugger, Karin, Wevers, Ron A, Boltshauser, Eugen, Bierau, Jörgen, Mayr, Johannes A, Wortmann, Saskia B
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10دورية أكاديمية
المؤلفون: Cauza, Karla, Hinterhuber, Gabriele, Dingelmaier-Hovorka, Ruth, Brugger, Karin, Klosner, Gabriele, Horvat, Reinhard, Wolff, Klaus, Foedinger, Dagmar
المصدر: Journal of Investigative Dermatology ; volume 124, issue 1, page 132-139 ; ISSN 0022-202X
مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1111/j.0022-202x.2004.23542.xTest
https://api.elsevier.com/content/article/PII:S0022202X15321382?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X15321382?httpAccept=text/plainTest