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1كتاب
المؤلفون: Schuldt, Maike
المصدر: Schuldt , M 2021 , ' Identification of disease modifiers and novel treatment targets in hypertrophic cardiomyopathy ' , PhD , Vrije Universiteit Amsterdam .
مصطلحات موضوعية: hypertrophic cardiomyopathy, disease modifiers, mutant protein dose, mutation location, protein quality control, proteomics, transcriptomics, metabolomics, tubulin, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf; image/jpeg
الإتاحة: https://research.vu.nl/en/publications/ca073f65-9824-400b-bdde-b4dac63f98ecTest
https://hdl.handle.net/1871.1/ca073f65-9824-400b-bdde-b4dac63f98ecTest
https://research.vu.nl/ws/files/127993393/M%20%20Schuldt%20-%20thesis.pdfTest
https://research.vu.nl/ws/files/127993395/M%20%20Schuldt%20-%20cover.jpgTest
https://research.vu.nl/ws/files/127993397/M%20%20Schuldt%20-%20title_page.pdfTest -
2دورية أكاديمية
المؤلفون: Schuldt, M. (Maike), Johnston, J.R. (Jamie R.), He, H. (Huan), Huurman, R. (Roy), Pei, J. (Jiayi), Harakalova, M. (Magdalena), Poggesi, C. (Corrado), Michels, M. (Michelle), Kuster, D.W.D. (Diederik), Pinto, J.R. (Jose R.), van der Velden, J. (Jolanda)
المصدر: Journal of Molecular and Cellular Cardiology vol. 150, pp. 77-90
مصطلحات موضوعية: Ca2+-sensitivity, Cardiomyopathy, Human tissue, Hypertrophic cardiomyopathy, Mutant protein dose, Mutation, Mutation location, Myofilament, Protein level, TNNT2, Troponin, Troponin exchange, Troponin T
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/131775Test; urn:hdl:1765/131775
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3دورية أكاديمية
المؤلفون: Corina Anastasaki, Feng Gao, David H. Gutmann
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: neurofibromatosis type 1, genotype-phenotype correlations, optic pathway glioma, mutation location, clinical risk assessment, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00115/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Soumava Mukherjee, Manoj Roy, Gautam Guha, Shankar Prasad Saha
المصدر: Journal of Neurosciences in Rural Practice, Vol 09, Iss 03, Pp 410-413 (2018)
مصطلحات موضوعية: cognitive impairment, duchenne muscular dystrophy, mutation location, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
العلاقة: https://doaj.org/toc/0976-3147Test; https://doaj.org/toc/0976-3155Test; https://doaj.org/article/5c4c8f38f0b440ceab47cd5dd5f5f4ceTest
الإتاحة: https://doi.org/10.4103/jnrp.jnrp_426_17Test
https://doaj.org/article/5c4c8f38f0b440ceab47cd5dd5f5f4ceTest -
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مصطلحات موضوعية: transcriptomics, proteomics, tubulin, SDG 3 - Good Health and Well-being, disease modifiers, mutant protein dose, mutation location, protein quality control, hypertrophic cardiomyopathy, metabolomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______4612::16f3366f6be93505fde01ccc3135d7a4Test
https://research.vu.nl/en/publications/ca073f65-9824-400b-bdde-b4dac63f98ecTest -
6
المؤلفون: Min, Xu, Hui, Xiong, Yanfang, Han, Chijun, Li, Shaozhen, Mai, Zhongzhou, Huang, Xuechen, Ai, Zhixuan, Guo, Fanqin, Zeng, Qing, Guo
المصدر: Frontiers in Genetics
مصطلحات موضوعية: genotype-phenotype correlations, optic pathway glioma, General Commentary, Genetics, mutation location, neurofibromatosis type 1, clinical risk assessment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a7cffbd85ae8a9e4e5b2d4cb7aa3fbd6Test
https://pubmed.ncbi.nlm.nih.gov/30881378Test -
7مورد إلكتروني
مصطلحات الفهرس: hypertrophic cardiomyopathy, disease modifiers, mutant protein dose, mutation location, protein quality control, proteomics, transcriptomics, metabolomics, tubulin, SDG 3 - Good Health and Well-being, PhD-Thesis - Research and graduation internal
URL:
https://research.vu.nl/en/publications/ca073f65-9824-400b-bdde-b4dac63f98ecTest https://research.vu.nl/ws/files/127993393/M%20%20Schuldt%20-%20thesis.pdfTest https://research.vu.nl/ws/files/127993397/M%20%20Schuldt%20-%20title_page.pdfTest https://research.vu.nl/ws/files/127993393/M%20%20Schuldt%20-%20thesis.pdfTest https://research.vu.nl/ws/files/127993395/M%20%20Schuldt%20-%20cover.jpgTest https://research.vu.nl/ws/files/127993397/M%20%20Schuldt%20-%20title_page.pdfTest -
8مورد إلكتروني
مصطلحات الفهرس: hypertrophic cardiomyopathy, disease modifiers, mutant protein dose, mutation location, protein quality control, proteomics, transcriptomics, metabolomics, tubulin, SDG 3 - Good Health and Well-being, PhD-Thesis - Research and graduation internal
URL:
https://research.vu.nl/en/publications/ca073f65-9824-400b-bdde-b4dac63f98ecTest https://research.vu.nl/ws/files/127993393/M%20%20Schuldt%20-%20thesis.pdfTest https://research.vu.nl/ws/files/127993397/M%20%20Schuldt%20-%20title_page.pdfTest https://research.vu.nl/ws/files/127993393/M%20%20Schuldt%20-%20thesis.pdfTest https://research.vu.nl/ws/files/127993395/M%20%20Schuldt%20-%20cover.jpgTest https://research.vu.nl/ws/files/127993397/M%20%20Schuldt%20-%20title_page.pdfTest -
9مورد إلكتروني