المؤلفون: Buitenhuis, M, van Deutekom, H W M, Verhagen, L P, Castor, Anders, Jacobsen, Sten Eirik W, Lammers, J W J, Koenderman, L, Coffer, P J

المصدر: Blood. 105(11):4272-4281

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Hematologi, Medical and Health Sciences, Clinical Medicine, Hematology

URL الوصول: https://lup.lub.lu.se/record/239123
http://dx.doi.org/10.1182/blood-2004-12-4883

المؤلفون: Geneugelijk, K, Hönger, G, van Deutekom, H W M, Thus, K A, Kesmir, C., Hösli, I, Schaub, S, Spierings, E

المساهمون: Sub Theoretical Biology & Bioinformatics, Sub Theoretical Biology, Dep Biologie, Theoretical Biology and Bioinformatics

مصطلحات موضوعية: translational research/science, histocompatibility, obstetrics and gynecology, pregnancy, antigen presentation/recognition

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/330224

الاتاحة: https://dspace.library.uu.nl/handle/1874/330224

المؤلفون: Heinig M., Adriaens M. E., Schafer S., van Deutekom H. W. M., Lodder E. M., Ware J. S., Schneider V., Felkin L. E., Creemers E. E., Meder B., Katus H. A., Ruhle F., Stoll M., Cambien F., Villard E., Charron P., Varro A., Bishopric N. H., George A. L., dos Remedios C., Moreno-Moral A., Pesce F., Bauerfeind A., Ruschendorf F., Rintisch C., Petretto E., Barton P. J., Cook S. A., Pinto Y. M., Bezzina C. R., Hubner N.

المساهمون: Heinig, M., Adriaens, M. E., Schafer, S., van Deutekom, H. W. M., Lodder, E. M., Ware, J. S., Schneider, V., Felkin, L. E., Creemers, E. E., Meder, B., Katus, H. A., Ruhle, F., Stoll, M., Cambien, F., Villard, E., Charron, P., Varro, A., Bishopric, N. H., George, A. L., dos Remedios, C., Moreno-Moral, A., Pesce, F., Bauerfeind, A., Ruschendorf, F., Rintisch, C., Petretto, E., Barton, P. J., Cook, S. A., Pinto, Y. M., Bezzina, C. R., Hubner, N.

مصطلحات موضوعية: Dilated cardiomyopathy, EQTL, Gene expression, Genetic, Heart, Adult, Allele, Alternative Splicing, Cardiomyopathy, Dilated, Female, Gene Expression Regulation, Genome-Wide Association Study, Genotype, Heart Ventricle, Human, Male, Middle Aged, Myocardium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genetic Variation, Transcriptome

Relation: info:eu-repo/semantics/altIdentifier/pmid/28903782; info:eu-repo/semantics/altIdentifier/wos/WOS:000410586400001; volume:18; issue:1; firstpage:170; journal:GENOME BIOLOGY; http://hdl.handle.net/11586/312853; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85029430721

الاتاحة: http://hdl.handle.net/11586/312853
https://doi.org/10.1186/s13059-017-1286-z

المؤلفون: Beqqali, Abdelaziz, Bollen, I. A. E., Rasmussen, T. B., van den Hoogenhof, M. M., van Deutekom, H. W. M., Schafer-Korting, M., Haas, J, Meder, Benjamin, Sorensen, K. E., van Oort, R. J., Mogensen, Jens, Hubner, N., Creemers, E. E., van der Velden, J., Pinto, Yigal M

المصدر: Beqqali , A , Bollen , I A E , Rasmussen , T B , van den Hoogenhof , M M , van Deutekom , H W M , Schafer-Korting , M , Haas , J , Meder , B , Sorensen , K E , van Oort , R J , Mogensen , J , Hubner , N , Creemers , E E , van der Velden , J & Pinto , Y M 2016 , ' A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling ....

مصطلحات موضوعية: Sarcomere Cardiomyopathy Dilated cardiomyopathy Heart failure Alternative splicing RBM20 length-dependent activation calcium homeostasis troponin-i rbm20 expression gene myocardium stiffness reveals tension Cardiovascular System & Cardiology, Heart failure, Alternative splicing, Dilated cardiomyopathy, Cardiomyopathy, RBM20, Sarcomere, Myocytes, Cardiac/metabolism, Phosphorylation, Cyclic AMP-Dependent Protein Kinases/metabolism, Humans, Male, RNA-Binding Proteins/genetics, Case-Control Studies, Connectin/genetics, Transfection, DNA Mutational Analysis, Adult, Female, Dilated/genetics, Cell Line, Genetic Predisposition to Disease, Genetic Association Studies, Models, Cardiovascular, Rats, Heredity, Haploinsufficiency, Phenotype

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/9160ae0d-cf40-42fe-bb42-e7a6cc304003
https://doi.org/10.1093/cvr/cvw192

المؤلفون: Geneugelijk, K., Hönger, G., Van Deutekom, H. W M, Thus, K. A., Keşmir, C., Hösli, I., Schaub, S., Spierings, E.

URL: http://hdl.handle.net/1874/333306
http://www.scopus.com/inward/record.url?scp=84948688565&partnerID=8YFLogxK
1600-6135
American Journal of Transplantation
http://www.scopus.com/inward/record.url?scp=84948688565&partnerID=8YFLogxK
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المؤلفون: Sub Theoretical Biology & Bioinformatics, Sub Theoretical Biology, Dep Biologie, Theoretical Biology and Bioinformatics, Geneugelijk, K, Hönger, G, van Deutekom, H W M, Thus, K A, Kesmir, C., Hösli, I, Schaub, S, Spierings, E

URL: https://doi.org/10.1111/ajt.13508
http://hdl.handle.net/1874/330224
1600-6135
American Journal of Transplantation
15
12
3112
22

المؤلفون: CDL unit HLA, Genetica Medische Informatica, CDL Celdiagnostiek, Infection & Immunity, Geneugelijk, K., Hönger, G., Van Deutekom, H. W M, Thus, K. A., Keşmir, C., Hösli, I., Schaub, S., Spierings, E.

URL: https://doi.org/10.1111/ajt.13508
http://hdl.handle.net/1874/333306
https://dspace.library.uu.nl/handle/1874/333306
http://www.scopus.com/inward/record.url?scp=84948688565&partnerID=8YFLogxK
1600-6135
American Journal of Transplantation
15
12
3112
3122