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1دورية أكاديمية
المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
المصدر: PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ami Ketley, Anne Warren, Emily Holmes, Martin Gering, A Aziz Aboobaker, J David Brook
المصدر: PLoS ONE, Vol 8, Iss 6, p e65170 (2013)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Helen R Griffin, Darroch H Hall, Ana Topf, James Eden, A Graham Stuart, Jonathan Parsons, Ian Peart, John E Deanfield, John O'Sullivan, Sonya V Babu-Narayan, Michael A Gatzoulis, Frances A Bu'lock, Shoumo Bhattacharya, Jamie Bentham, Martin Farrall, Javier Granados Riveron, J David Brook, John Burn, Heather J Cordell, Judith A Goodship, Bernard Keavney
المصدر: PLoS ONE, Vol 4, Iss 3, p e4978 (2009)
وصف الملف: electronic resource
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المصدر: Journal of Neurology. 269:2784-2787
مصطلحات موضوعية: Phenotype, Neurology, Humans, Myotonic Dystrophy, Neurology (clinical), Muscle, Skeletal
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المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Cytoplasm, Transcription, Genetic, lcsh:Medicine, Biology, Development, Transfection, Biochemistry, Heart Septal Defects, Atrial, Histone Deacetylases, Article, 03 medical and health sciences, 0302 clinical medicine, Chlorocebus aethiops, Limb development, Animals, MEF2C, Abnormalities, Multiple, Upper Extremity Deformities, Congenital, Cloning, Molecular, lcsh:Science, Psychological repression, Transcription factor, Protein Kinase C, Histone deacetylase 5, Multidisciplinary, MEF2 Transcription Factors, lcsh:R, Acetylation, HDAC4, Recombinant Proteins, Cell biology, Rats, Repressor Proteins, 030104 developmental biology, COS Cells, lcsh:Q, Protein kinase D1, T-Box Domain Proteins, 030217 neurology & neurosurgery, Lower Extremity Deformities, Congenital
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المؤلفون: Philippine C. Geiszler, Rebecca C. Trueman, Tushar K. Ghosh, Marzena Wojciechowska, David H. Drewry, Ami Ketley, Martin Rüdiger, Marcus Bantscheff, Zhen Zhi Tang, Rudolf Billeter-Clark, Naveed Altaf Malik, Danuta E. Mossakowska, Sonja Ghidelli-Disse, Paulina K. Powalowska, Othman Ahmad Othman, Markus Bösche, Christopher J. Hayes, Charles A. Thornton, Matthew K Tanner, Marta Lopez Morato, William J. Zuercher, Gerard Drewes, J. David Brook, Saam Sedehizadeh, Alessandra Agostini, Paul Bamborough, Iain Uings
المصدر: Science Translational Medicine. 12
مصطلحات موضوعية: Untranslated region, RNA Splicing, RNA, General Medicine, Biology, medicine.disease, Myotonia, Myotonic dystrophy, Cyclin-Dependent Kinases, Disease Models, Animal, Mice, RNA splicing, Cancer research, medicine, Animals, Humans, Myotonic Dystrophy, Trinucleotide Repeat Expansion, Protein kinase A, Trinucleotide repeat expansion, CDK12
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b34d18f2b5a4f68fe67901b5ca4b8c
https://doi.org/10.1126/scitranslmed.aaz2415 -
9دورية أكاديمية
المؤلفون: Javier T. Granados-Riveron, J. David Brook
المصدر: Biochemistry Research International, Vol 2012 (2012)
مصطلحات موضوعية: Biochemistry, QD415-436
وصف الملف: electronic resource
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المؤلفون: Canan Doganli, Gregor Dombrowsky, Alejandro Sifrim, J. David Brook, Marc-Phillip Hitz, Sabrina Gade Ellesøe, Natasja Spring Ehlers, Marlene Danner Dalgaard, Lars Allan Larsen, Marc Gewillig, Anna Wilsdon, Enrique Audain, Jeroen Breckpot, Søren Brunak, Bernard Thienpont, Jose M. G. Izarzugaza
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, biology, Mechanism (biology), Disease, 030204 cardiovascular system & hematology, medicine.disease_cause, biology.organism_classification, Genetic architecture, 03 medical and health sciences, 0302 clinical medicine, medicine, Allele, Gene, Zebrafish, Exome sequencing, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45345a4a5d80fff7b69a043af6c9841