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1دورية أكاديمية
المؤلفون: Luc Cozijnsen, Astrid S. Plomp, Jan G. Post, Gerard Pals, Natalija Bogunovic, Kak K. Yeung, Hans W. M. Niessen, Marie‐José T. H. Goumans, Daniela Q. C. M. Barge‐Schaapveld, Dimitra Micha
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
مصطلحات موضوعية: Loeys–Dietz syndrome, Myogenic transdifferentiation of fibroblasts, Smooth muscle‐like cells, TGFBR1 mutation, Thoracic aortic aneurysm and aortic dissection, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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المؤلفون: Johanna C. Herkert, K. E. Niezen-Koning, Ludolf G. Boven, Marja W. Wessels, Anna Posafalvi, Peter G. J. Nikkels, Paul A. van der Zwaag, J. Peter van Tintelen, Ingrid H van Veen-Hof, Richard J. Rodenburg, Jan G. Post, Maarten P. van den Berg, Jan D. H. Jongbloed, Peter H.G.M. Willems, Judith M.A. Verhagen, Rowida Almomani, Richard J. Sinke, Liesbeth T. Wintjes
المساهمون: Cardiovascular Centre (CVC), Clinical Genetics
المصدر: Journal of Medical Genetics, 57, 23-30
Journal of Medical Genetics, 57, 1, pp. 23-30
JOURNAL OF MEDICAL GENETICS, 57(1), 23-30. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(1), 23. BMJ Publishing Group
Journal of Medical Genetics, 57(1), 23-30. BMJ Publishing Groupمصطلحات موضوعية: 0301 basic medicine, DNA Mutational Analysis, Cardiomyopathy, 030204 cardiovascular system & hematology, Mitochondrion, chemistry.chemical_compound, 0302 clinical medicine, ANTIOXIDANTS, Superoxides, Genetics(clinical), OXIDATIVE STRESS, Conserved Sequence, Genetics (clinical), biology, Superoxide, Homozygote, GENETIC-VARIATION, Dilated cardiomyopathy, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Mitochondria, Pedigree, MANGANESE SUPEROXIDE-DISMUTASE, cardiovascular system, HEART-FAILURE, Female, Cardiomyopathy, Dilated, Mitochondrial disease, Mutation, Missense, SOD2, METABOLISM, MITOCHONDRIAL DISEASE, COMPLEX-I, Superoxide dismutase, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Idiopathic dilated cardiomyopathy, medicine, Genetics, Humans, Amino Acid Sequence, POLYMORPHISMS, Superoxide Dismutase, business.industry, MUTATIONS, Myocardium, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, chemistry, Immunology, biology.protein, business, cardiomyopathy, clinical genetics
وصف الملف: application/pdf; image/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b936e0451323aa4e2371db549ba6a2e8Test
https://hdl.handle.net/1874/392527Test -
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المؤلفون: Janneke C. van den Bergen, Jan G. Post, Jan J.G.M. Verschuuren, Anneke J. van der Kooi, Dave van Heusden, H.B. Ginjaar, Marianne de Visser, Esther Brusse, Nicol C. Voermans, Pieternella F. Ippel, Chiara S. M. Straathof
المصدر: Muscle & Nerve. 53:44-48
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Physiology, Disease, 030105 genetics & heredity, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Physiology (medical), medicine, Muscular dystrophy, Genetics, Mutation, business.industry, medicine.disease, Phenotype, chemistry, Cohort, Neurology (clinical), Genetic diagnosis, business, 030217 neurology & neurosurgery, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7845e291e9ff7be8f2c0877ed076bc7cTest
https://doi.org/10.1002/mus.24691Test -
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المؤلفون: Eline A. Nannenberg, R. N. W. Hauer, van den Maarten Berg, Jan G. Post, van Isabelle Gelder, A. A. M. Wilde, van Peter Tintelen, I. A. W. Van Rijsingen, Judith A. Groeneweg, R. de Ruiter, van der Paul Zwaag, van der Pim Harst
المساهمون: ACS - Amsterdam Cardiovascular Sciences, Cardiology, Human Genetics, Other departments, Ethical, Legal, Social Issues in Genetics (ELSI), Cardiovascular Centre (CVC)
المصدر: Netherlands Heart Journal
Netherlands heart journal, 21(6), 286-293. Bohn Stafleu van Loghum
Netherlands Heart Journal, 21(6), 286-293. Bohn, Stafleu, Van Loghumمصطلحات موضوعية: Proband, RIGHT-VENTRICULAR CARDIOMYOPATHY, medicine.medical_specialty, Cardiomyopathy, Population, Gene mutation, PLN, FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DISEASE, CLASSIFICATION, Internal medicine, medicine, Genetics, CARDIOVASCULAR MORBIDITY, Family history, education, Founder mutation, POPULATION, CARDIOLOGY, education.field_of_study, DCM, business.industry, medicine.disease, DILATED CARDIOMYOPATHY, Phospholamban, ARVC/D, Cohort, Mutation (genetic algorithm), Cardiology, HEART-FAILURE, Original Article, business, Cardiology and Cardiovascular Medicine, GENE-MUTATIONS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5b4877fb9bdc98a5da7526d11d914dTest
http://europepmc.org/articles/PMC3661879Test -
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المؤلفون: Ingrid A.W. van Rijsingen, Ronald H. Lekanne Deprez, Paul A. van der Zwaag, Jan G. Post, Yigal M. Pinto, Maarten P. van den Berg, Judith A. Groeneweg, Richard N.W. Hauer, Hanno L. Tan, Imke Christiaans, Arthur A.M. Wilde, J. Peter van Tintelen, Rudolf A. de Boer, Aeilko H. Zwinderman, Jan D. H. Jongbloed, Eline A. Nannenberg
المساهمون: Cardiovascular Centre (CVC), Ethical, Legal, Social Issues in Genetics (ELSI), ACS - Amsterdam Cardiovascular Sciences, Cardiology, Human Genetics, APH - Amsterdam Public Health, Epidemiology and Data Science, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research
المصدر: Circulation-Cardiovascular Genetics, 7(4), 455-465. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Cardiovascular genetics, 7(4), 455-465. Lippincott Williams and Wilkinsمصطلحات موضوعية: Male, arrhythmogenic right ventricular dysplasia-cardiomyopathy, cardiomyopathy, dilated, Cardiomyopathy, Ventricular tachycardia, ARRHYTHMOGENIC CARDIOMYOPATHY, Sudden cardiac death, RISK STRATIFICATION, Cohort Studies, Electrocardiography, RIGHT-VENTRICULAR DYSPLASIA/CARDIOMYOPATHY, Surveys and Questionnaires, Medicine, risk factors, genetics, Arrhythmogenic Right Ventricular Dysplasia, Genetics (clinical), phospholamban, Ejection fraction, HYPERTROPHIC CARDIOMYOPATHY, Age Factors, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Middle Aged, EUROPEAN-SOCIETY, Cardiology, cardiovascular system, Female, Cardiology and Cardiovascular Medicine, arrhythmias, dilated, Adult, medicine.medical_specialty, cardiac, MUTATION CARRIERS, Internal medicine, Humans, cardiovascular diseases, Aged, business.industry, Calcium-Binding Proteins, NATURAL-HISTORY, arrhythmias, cardiac, medicine.disease, DILATED CARDIOMYOPATHY, Survival Analysis, mortality, Standardized mortality ratio, Heart failure, business, cardiomyopathy, SUDDEN CARDIAC DEATH, Gene Deletion, Liver Failure, Follow-Up Studies, TASK-FORCE
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d80877aeaef605cb35a2257da03436Test
https://research.rug.nl/en/publications/5ae4a333-543f-4edd-b618-bd662396fb87Test -
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المؤلفون: Tessa Homfray, Jeroen F. van der Heijden, Hennie Bikker, Marcel Mulder, Jan D. H. Jongbloed, Anneke M. van Mil, Judith A. Groeneweg, Arthur A.M. Wilde, Arjan C. Houweling, J. Peter van Tintelen, Jan G. Post, Richard N.W. Hauer, Jasper J. van der Smagt, Amber Ummels, Dennis Dooijes, Arif Elvan
المساهمون: Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, Cardiology, Human genetics, ICaR - Heartfailure and pulmonary arterial hypertension, Cardiovascular Centre (CVC)
المصدر: Heart rhythm, 11(11), 2010-2017. Elsevier
Heart Rhythm, 11(11), 2010-2017. Elsevier
Groeneweg, J A, Ummels, A, Mulder, M, Bikker, H, van der Smagt, J J, van Mil, A M, Homfray, T, Post, J G, Elvan, A, van der Heijden, J F, Houweling, A C, Jongbloed, J D, Wilde, A A, van Tintelen, J, Hauer, R N & Dooijes, D 2014, ' Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy ', Heart Rhythm, vol. 11, no. 11, pp. 2010-2017 . https://doi.org/10.1016/j.hrthm.2014.07.041Test
Heart Rhythm, 11(11), 2010-2017. ELSEVIER SCIENCE INC
Heart Rhythm, 11(11), 2010-2017مصطلحات موضوعية: Male, Splice site mutations, PLAKOPHILIN-2, DISEASE, Electrocardiography, DYSPLASIA, Arrhythmogenic Right Ventricular Dysplasia, Genetics, Desmoglein 2, Reverse Transcriptase Polymerase Chain Reaction, Desmosomes, Exons, RNA analysis, Middle Aged, Arrhythmogenic right ventricular dysplasia, Pedigree, SUBSTITUTIONS, RNA splicing, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Algorithms, Adult, PLAKOGLOBIN, Adolescent, Desmoglein-2, Plakoglobin, Biology, TASK-FORCE CRITERIA, Ventricular arrhythmias, Physiology (medical), medicine, Humans, splice, RNA, Messenger, Gene, Alleles, Aged, Desmocollins, SPECTRUM, DSC2, CARDIOMYOPATHY, MUTATIONS, Calcium-Binding Proteins, Genetic Variation, Membrane Proteins, Arrhythmogenic right ventricular dysplasia/cardiomyopathy, medicine.disease, GENE, Exon skipping, Introns, Desmoplakins, Mutation, RNA Splice Sites, gamma Catenin, Plakophilins, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13dd7fd5a0b6045b169ddd54a0a2901aTest
https://pubmed.ncbi.nlm.nih.gov/25087486Test -
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المؤلفون: Robert M.W. Hofstra, Ying Wu, Rolf H. Sijmons, Tineke van der Sluis, Maran J.W. Berends, Harry Hollema, E Verlind, Claudia Kempinga, Rob G.J. Mensink, Ate G.J. van der Zee, Jan G. Post, Jan H. Kleibeuker, Charles H.C.M. Buys
المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), Targeted Gynaecologic Oncology (TARGON)
المصدر: Gastroenterology, 120(7), 1580-1587. W B SAUNDERS CO-ELSEVIER INC
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Amsterdam criteria, DNA Repair, Base Pair Mismatch, MICROSATELLITE INSTABILITY, ICG-HNPCC, Loss of Heterozygosity, RECOMBINATION, INTERNATIONAL-COLLABORATIVE-GROUP, Biology, Germline, MISMATCH REPAIR, Loss of heterozygosity, Germline mutation, medicine, Humans, Missense mutation, neoplasms, Germ-Line Mutation, Genetics, EXONUCLEASE-I, IDENTIFICATION, Hepatology, Reverse Transcriptase Polymerase Chain Reaction, COLON-CANCER, Gastroenterology, nutritional and metabolic diseases, Microsatellite instability, DNA, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, SACCHAROMYCES-CEREVISIAE EXO1, DNA Repair Enzymes, Exodeoxyribonucleases, Attenuated familial adenomatous polyposis, MSH2, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480c8e139cccbf3231eb0d5a53f52134Test
https://doi.org/10.1053/gast.2001.25117Test -
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المؤلفون: Fiona A. Stewart, Johannes A. M. te Poele, Jan G. Post, Y. Oussoren
المصدر: Radiotherapy and Oncology. 34:30-38
مصطلحات موضوعية: Mitomycin, media_common.quotation_subject, Urinary Bladder, Urination, Urine, Radiation Dosage, Radiation Tolerance, Mice, Radiation tolerance, Animals, Medicine, Radiology, Nuclear Medicine and imaging, Doxorubicin, Irradiation, media_common, medicine.diagnostic_test, business.industry, Mitomycin C, Cystometry, Hematology, Administration, Intravesical, Oncology, Anesthesia, Female, business, Intravesical chemotherapy, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034f710fc60ebe1809969c902518bf4cTest
https://doi.org/10.1016/0167-8140Test(94)01471-e -
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المؤلفون: P. F. Ippel, Nicol C. Voermans, Jan G. Post, Chiara S. M. Straathof, H.B. Ginjaar, A. J. van der Kooi, Esther Brusse, M. de Visser, D. van Heusden, J.C. van den Bergen, J.J.G. Verschuuren
المصدر: Neuromuscular Disorders. 24:794
مصطلحات موضوعية: musculoskeletal diseases, Proband, medicine.medical_specialty, Pathology, business.industry, medicine.disease, Delayed diagnosis, Asymptomatic, Limb girdle weakness, Mild symptoms, Neurology, Male patient, Internal medicine, Pediatrics, Perinatology and Child Health, Clinical information, medicine, Neurology (clinical), Muscular dystrophy, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75ed85f258141e129fcff876dd39978aTest
https://doi.org/10.1016/j.nmd.2014.06.015Test -
10دورية أكاديمية
المؤلفون: Koen M A Dreijerink, Andre ́ P Van Beek, Eef G W M Lentjes, Jan G Post, Rob B Van Der Luijt, Marijke R Canninga-van Dijk, Cornelis J M Lips
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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