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1دورية أكاديمية
المؤلفون: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
مصطلحات موضوعية: dilated cardiomyopathy, genetic modifier, genetics, sarcomere, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, GUIDELINES, BURDEN, Genetics (clinical)
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المؤلفون: Sophie L.V.M. Stroeks, Ida G. Lunde, Debby M.E.I. Hellebrekers, Godelieve R.F. Claes, Hiroko Wakimoto, Joshua Gorham, Ingrid P.C. Krapels, Els K. Vanhoutte, Arthur van den Wijngaard, Michiel T.H.M. Henkens, Anne G. Raafs, Maurits A. Sikking, Jos L.V. Broers, Miranda Nabben, Elizabeth A.V. Jones, Stephane R.B. Heymans, Han G. Brunner, Job A.J. Verdonschot
المصدر: Circulation. Genomic and Precision Medicine, 16, 2
Circulation. Genomic and Precision Medicine, 16مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], GENETICS, phenotype, MUTATIONS, genotype, LMNA, General Medicine, cardiomyopathy, dilated
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb94c3a2c1bb818301f92ecf7b5f346f
https://doi.org/10.1161/CIRCGEN.122.003788 -
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المؤلفون: Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek
المساهمون: MUMC+: DA KG Polikliniek (6), KNO, MUMC+: MA Keel Neus Oorheelkunde (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Molecular Neuroscience and Ageing Research (MOLAR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Movement Disorder (MD)
المصدر: Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERGمصطلحات موضوعية: Adult, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cerebellar Ataxia, CANVAS, Peripheral Nervous System Diseases, Optical genome mapping, Adult-onset ataxia, Repeat expansion, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], RFC1, Neurology, Prevalence, Humans, Ataxia, Neurology (clinical), COMMON-CAUSE, Retrospective Studies
وصف الملف: application/pdf
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المؤلفون: Michiel T H M Henkens, Upasana Tayal, Godelieve R.F. Claes, Arthur van den Wijngaard, Debby M.E.I. Hellebrekers, Sophie L.V.M. Stroeks, Els K. Vanhoutte, Job A J Verdonschot, Han G. Brunner, Ingrid P.C. Krapels, Stephane Heymans, James S. Ware
المساهمون: Cardiologie, RS: Carim - H02 Cardiomyopathy, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), MUMC+: MA Med Staf Spec Cardiologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA Klinische Genetica (5), Wellcome Trust, British Heart Foundation
المصدر: Genetics in Medicine, 23, 11, pp. 2186-2193
Genetics in Medicine, 23(11), 2186-2193. Nature Publishing Group
Genetics in Medicine, 23, 2186-2193مصطلحات موضوعية: Cardiomyopathy, Dilated, 0301 basic medicine, Proband, Oncology, medicine.medical_specialty, Cardiomyopathy, MEDICAL GENETICS, 030105 genetics & heredity, AMERICAN-COLLEGE, RECOMMENDATIONS, 03 medical and health sciences, Internal medicine, medicine, Humans, Genetic Testing, Gene, Genetics (clinical), Genetic testing, Genetics & Heredity, 0604 Genetics, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.diagnostic_test, business.industry, Molecular pathology, STATEMENT, Genetic Variation, 1103 Clinical Sciences, Dilated cardiomyopathy, Genomics, medicine.disease, Phenotype, 030104 developmental biology, Medical genetics, UPDATE, business, Life Sciences & Biomedicine
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P.A. Stegmann, Els K. Vanhoutte, Job A.J Verdonshot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G.M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e21c3ec05e6add7614b086357f2451f
https://doi.org/10.1101/2022.02.16.22270779 -
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المؤلفون: Els K. Vanhoutte
المساهمون: Faber, Karin, van Doorn, P.A., Merkies, I.S.J., MUMC+: DA KG Polikliniek (9), Promovendi MHN
مصطلحات موضوعية: medicine.medical_specialty, peripheral neuropathy, Standardization, business.industry, Outcome measures, medicine.disease, Outcome (game theory), Chronic disorders, outcome measures, Engineering management, Peripheral neuropathy, Medicine, business, Intensive care medicine, Polyneuropathy
وصف الملف: application/pdf; image/jpeg
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6f494e97ed36cb3bbd547eba8296ee
https://doi.org/10.26481/dis.20150313ev -
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المؤلفون: Sophie L V M, Stroeks, Debby M E I, Hellebrekers, Godelieve R F, Claes, Upasana, Tayal, Ingrid P C, Krapels, Els K, Vanhoutte, Arthur, van den Wijngaard, Michiel T H M, Henkens, James S, Ware, Stephane R B, Heymans, Han G, Brunner, Job A J, Verdonschot
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)
مصطلحات موضوعية: Cardiomyopathy, Dilated, Phenotype, Genetic Variation, Humans, Genetic Testing, Genomics
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المؤلفون: Arthur van den Wijngaard, Carlo Marcelis, Ingrid P.C. Krapels, Yvonne M. Hoedemaekers, Apollonia T. J. M. Helderman-van den Enden, Debby M.E.I. Hellebrekers, Job A J Verdonschot, Esther Brusse, Godelieve R.F. Claes, Hanne M Boen, Imke Christiaans, Janneke G. J. Hoeijmakers, Marlies Kempers, Pieter Koopman, Bart Loeys, Han G. Brunner, Stephane Heymans, Els K. Vanhoutte, Amber de Haan, Jaap I. van Waning, Ronald H. Lekanne Deprez, Annette F. Baas, Dennis Dooijes, Emeline M. Van Craenenbroeck, Daniela Q.C.M. Barge-Schaapveld, Folkert W. Asselbergs
المساهمون: Asselbergs, Folkert/0000-0002-1692-8669, Koopman, Pieter/0000-0002-6373-180X, Christiaans, Imke/0000-0001-5799-2344, Cardiologie, RS: Carim - H02 Cardiomyopathy, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Cardiologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Human Genetics, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development
المصدر: Human mutation
Human Mutation, 41(6), 1091-1111. Wiley
Human Mutation
Human mutation, 41(6), 1091-1111. Wiley-Liss Inc.
Human Mutation, 41, 6, pp. 1091-1111
Human Mutation: Variation, Informatics and Disease, 41(6), 1091-1111. WILEY
Human Mutation, 41, 1091-1111مصطلحات موضوعية: Cardiomyopathy, Filamin, MYOFIBRILLAR MYOPATHY, Missense mutation, FLNC, Muscular dystrophy, Genetics (clinical), Genetics & Heredity, Genetics, 0303 health sciences, Mutation Update, HYPERTROPHIC CARDIOMYOPATHY, 030305 genetics & heredity, Hypertrophic cardiomyopathy, genotype–phenotype correlation, filamin, cardiovascular system, HEART-FAILURE, medicine.symptom, Cardiomyopathies, Haploinsufficiency, PROTEIN AGGREGATION, Life Sciences & Biomedicine, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Myopathies, Structural, Congenital, myopathy, Cardiomyopathy, Dilated, TRUNCATING VARIANTS, FILAMIN-C, Filamins, ACTIN-BINDING DOMAIN, Biology, genotype-phenotype correlation, CLASSIFICATION, 03 medical and health sciences, Muscular Diseases, medicine, Animals, Humans, cardiovascular diseases, Myopathy, Genetic Association Studies, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, IDENTIFICATION, Arrhythmias, Cardiac, medicine.disease, MUSCULAR-DYSTROPHY, Disease Models, Animal, Mutation, Human medicine, cardiomyopathy
وصف الملف: application/pdf; Print-Electronic
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