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1Academic Journal
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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2Academic Journal
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: 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: 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
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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
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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
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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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المؤلفون: Stephane Heymans, Ingrid P.C. Krapels, Godelieve R.F. Claes, Han G. Brunner, Job Verdonschot, Michiel T H M Henkens, Els K. Vanhoutte, Jort J. Merken, Ping Wang, Mark R. Hazebroek, Arthur van den Wijngaard, Anne Raafs
المساهمون: RS: Carim - H02 Cardiomyopathy, Cardiologie, MUMC+: MA Med Staf Artsass Cardiologie (9), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Med Staf Spec Cardiologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Circulation. Genomic and Precision Medicine, 13, 5, pp. 476-487
Circulation: Genomic and Precision Medicine, 13(5):003031, 476-487. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 13, 476-487مصطلحات موضوعية: Male, Cardiomyopathy, heart failure, 030204 cardiovascular system & hematology, Genetic analysis, 0302 clinical medicine, Risk Factors, Genotype, Connectin, 030212 general & internal medicine, Registries, medicine.diagnostic_test, STATEMENT, Clinical course, Dilated cardiomyopathy, General Medicine, Middle Aged, Lamin Type A, GENOTYPE, Survival Rate, cardiovascular system, Cardiology, Female, dilated, Adult, Cardiomyopathy, Dilated, medicine.medical_specialty, phenotype, prevalence, arrhythmia, DIAGNOSIS, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Internal medicine, medicine, Genetic predisposition, Humans, cardiovascular diseases, Genetic Testing, Genetic testing, Aged, Proportional Hazards Models, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Genetic Variation, medicine.disease, Heart failure, business, cardiomyopathy
وصف الملف: application/pdf
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المؤلفون: Bart P.C. van de Warrenburg, Mayke Oosterloo, Yvonne J. Vos, Erik-Jan Kamsteeg, Fleur Vansenne, Maartje Pennings, Els K. Vanhoutte, Deborah A Sival, Erica H. Gerkes, Niklas Darin, Hermine E. Veenstra-Knol, Tom J. de Koning, Marina A. J. Tijssen, Iris G.M. Wijnen
المساهمون: Movement Disorder (MD), MUMC+: DA KG Polikliniek (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)
المصدر: Eur J Hum Genet
European Journal of Human Genetics, 28, 763-769
EJHG, 28(6), 763-769. Nature Publishing Group
European Journal of Human Genetics, 28, 6, pp. 763-769
European Journal of Human Genetics, 28(6), 763-769. Nature Publishing Groupمصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, media_common.quotation_subject, Nonsense, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Frameshift mutation, 03 medical and health sciences, Young Adult, Borderline intellectual functioning, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Spasticity, TRANSCRIPTION, Child, Genetics (clinical), media_common, 0303 health sciences, business.industry, MUTATIONS, 030305 genetics & heredity, Calcium-Binding Proteins, PARAPLEGIAS, Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Muscle Spasticity, Child, Preschool, Mutation, Spinocerebellar ataxia, Trans-Activators, Female, medicine.symptom, business
وصف الملف: application/pdf
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المؤلفون: Ilse Feenstra, Marieke F. van Dooren, Marie José H. Van Den Boogaard, Rolph Pfundt, Stefan H. Lelieveld, Celia Zazo Seco, Henricus P. M. Kunst, Ilse J. de Wijs, Christian Gilissen, Saskia M. Maas, Arjan C. Houweling, Saskia Tamminga, Astrid S Plomp, Steven Castelein, Helger G. Yntema, Margit Schraders, Els K. Vanhoutte, Ronald J.C. Admiraal, Sarina G. Kant, Suzanna G.M. Frints, Hans Scheffer, Christa M. De Geus, Pia A. M. de Koning Gans, Jiddeke M. van de Kamp, Jayne Y. Hehir-Kwa, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Marcel R. Nelen, Lies H. Hoefsloot
المساهمون: Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Clinical Genetics, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), Human Genetics, Paediatric Genetics
المصدر: European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182مصطلحات موضوعية: 0301 basic medicine, MYO15A, 030105 genetics & heredity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Connexins, Exome, Copy-number variation, MUTATION, Genetics (clinical), Exome sequencing, Netherlands, Genetics, COPY NUMBER VARIANTS, Extracellular Matrix Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], EAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Connexin 26, Intercellular Signaling Peptides and Proteins, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], DEAFNESS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], STRC, medicine.medical_specialty, DNA Copy Number Variations, OTOGELIN, Genetic counseling, Biology, Myosins, GPI-Linked Proteins, FREQUENCY, Article, 03 medical and health sciences, Molecular genetics, Journal Article, medicine, Humans, Genetic Testing, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Hearing Loss, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myosin Heavy Chains, IDENTIFICATION, Genetic heterogeneity, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Membrane Proteins, Sequence Analysis, DNA, 030104 developmental biology
وصف الملف: application/pdf; image/pdf
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المؤلفون: Jean Pouget, Anneke J. van der Kooi, Angelika F. Hahn, Kenneth C. Gorson, W. Ludo van der Pol, David R. Cornblath, Michael P. Lunn, Catharina G. Faber, Thomas H P Draak, Pieter A. van Doorn, Eduardo Nobile-Orazio, Els K. Vanhoutte, Leonard H. van den Berg, Vera Bril, Nicolette C. Notermans, Peter Y K Van Den Bergh, Jean Marc Léger, Janneke G. J. Hoeijmakers, Sonja I. van Nes, Giuseppe Lauria, Richard A. Lewis, Ingemar S. J. Merkies, Hans D. Katzberg
المصدر: Journal of the Peripheral Nervous System. 20:289-295
مصطلحات موضوعية: medicine.medical_specialty, General Neuroscience, Polyradiculoneuropathy, Newly diagnosed, medicine.disease, humanities, Surgery, Correlation, Standard error, Internal medicine, medicine, Dynamic pattern, In patient, Neurology (clinical), Psychology
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المؤلفون: Catharina G. Faber, W. Ludo van der Pol, Vera Bril, Kenneth C. Gorson, Peter Van den Bergh, Sonja I. van Nes, Mayienne Bakkers, Ingemar S. J. Merkies, Michael P. Lunn, Leonard H. van den Berg, Eduardo Nobile-Orazio, Hans D. Katzberg, Anneke J. van der Kooi, Nicolette C. Notermans, Richard A. Lewis, Els K. Vanhoutte, Angelika F. Hahn, Pieter A. van Doorn, Mariëlle H J Pruppers, Jean Marc Léger, Jean Pouget, David R. Cornblath, Thomas H P Draak, Giuseppe Lauria
المصدر: Journal of the Peripheral Nervous System. 20:269-276
مصطلحات موضوعية: medicine.medical_specialty, General Neuroscience, Minimal clinically important difference, Mismatch negativity, Polyradiculoneuropathy, medicine.disease, Grip strength, medicine, Comparison study, Physical therapy, In patient, Neurology (clinical), Psychology, Polyneuropathy, Multifocal motor neuropathy
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المؤلفون: W. Ludo van der Pol, Kenneth C. Gorson, David R. Cornblath, Pieter A. van Doorn, Elisabeth A. Cats, Ingemar S. J. Merkies, Catharina G. Faber, Leonard H. van den Berg, Els K. Vanhoutte, Sonja I. van Nes
المصدر: Journal of the Peripheral Nervous System. 20:296-305
مصطلحات موضوعية: medicine.medical_specialty, Rasch model, Activities of daily living, General Neuroscience, Mismatch negativity, Audiology, medicine.disease, behavioral disciplines and activities, Developmental psychology, Clinical trial, Standard error, Severity of illness, medicine, Neurology (clinical), Psychology, psychological phenomena and processes, Reliability (statistics), Multifocal motor neuropathy
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المؤلفون: Kenneth C. Gorson, Catharina G. Faber, Jean-Louis Thonnard, Els K. Vanhoutte, Ingemar S. J. Merkies, Mieke C. E. Hermans
المصدر: Journal of the Peripheral Nervous System. 20:260-268
مصطلحات موضوعية: Rasch model, Future studies, General Neuroscience, Applied psychology, Item response theory, Outcome measures, Clinical state, Neurology (clinical), Psychology, Outcome (game theory), Strengths and weaknesses, Classical test theory, Clinical psychology
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المؤلفون: Anneke J. van der Kooi, Peter Van den Bergh, Giuseppe Lauria, Hans D. Katzberg, Kenneth C. Gorson, Catharina G. Faber, David R. Cornblath, Ingemar S. J. Merkies, Els K. Vanhoutte, Sonja I. van Nes, Richard A. Lewis, W. Ludo van der Pol, Thomas H P Draak, Eduardo Nobile-Orazio, Pieter A. van Doorn, Vera Bril, Leonard H. van den Berg, Angelika F. Hahn, Jean Pouget, Michael P. Lunn, Jean Marc Léger, Nicolette C. Notermans
المصدر: Journal of the Peripheral Nervous System. 20:277-288
مصطلحات موضوعية: Ordinal data, medicine.medical_specialty, Rasch model, General Neuroscience, Validity, Polyradiculoneuropathy, Sensory system, medicine.disease, Developmental psychology, IgM Monoclonal Gammopathy, Internal medicine, medicine, In patient, Neurology (clinical), Psychology, Polyneuropathy
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المؤلفون: Mariëlle H J Pruppers, Els K. Vanhoutte, Thomas H P Draak, Catharina G. Faber, Ingemar S. J. Merkies, Kenneth C. Gorson, W-Ludo van der Pol, Eduardo Nobile-Orazio, Leonard H. van den Berg, Jean-Marc Léger, Richard A. Lewis
المصدر: Journal of the Peripheral Nervous System. 20:306-318
مصطلحات موضوعية: medicine.medical_specialty, Rasch model, General Neuroscience, Minimal clinically important difference, Outcome measures, Mismatch negativity, medicine.disease, Surgery, Clinical trial, Grip strength, Peripheral neuropathy, Physical medicine and rehabilitation, medicine, Neurology (clinical), Psychology, Multifocal motor neuropathy
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المؤلفون: Adelaida M. Celaya, Helger G. Yntema, Suzanne E. de Bruijn, Kees Okkersen, Jaap Oostrik, H. Kremer, Elisabeth H. Hoefsloot, R.J. Stokroos, Erwin van Wijk, Nicol C. Voermans, Stefan H. Lelieveld, H.H.W. de Gier, Theo A. Peters, Henricus P. M. Kunst, M.F. van Dooren, Elena Gómez-Rosas, Carel B. Hoyng, S.G.M. Frints, Ronald J.C. Admiraal, I. Feenstra, Rolien Free, Andy J. Beynon, Hans J. P. M. Koenen, Ilse Feenstra, Isabel Varela-Nieto, A. J. van Essen, Peter Lichtner, L.J.C. Rotteveel, M.P. van der Schroeff, Margit Schraders, Jack Weeda, Ignacio del Castillo, S.G. Kant, J.R. Hof, R.J.E. Pennings, Els K. Vanhoutte, H.G. Yntema, R.J.C. Admiraal, Irma Joosten, Pau Serra, Silvia Murillo-Cuesta, Ronald J.E. Pennings, Mieke Wesdorp, Bas P. Hartel, Hannie Kremer, J.S. Klein-Wassink, Anne M.M. Oonk
المساهمون: Ministerio de Economía y Competitividad (España), European Commission, Instituto de Salud Carlos III
المصدر: American Journal of Human Genetics, 103, 1, pp. 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Deiters cells, cochlea, MathematicsofComputing_GENERAL, Degeneration (medical), Deafness, Epithelium, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Myelin, Mice, Hearing, Genetics (clinical), Neurons, Homozygote, TheoryofComputation_GENERAL, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cochlea, medicine.anatomical_structure, Female, Spiral Ganglion, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, hair cells, MPZL2, Hearing Loss, Sensorineural, Biology, Deiters Cells, Mpzl2, Hair Cells, Hearing Impairment, Human, Mouse, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Hair Cells, Auditory, Genetics, medicine, Cell Adhesion, otorhinolaryngologic diseases, Animals, Humans, Inner ear, human, Spiral ganglion, mouse, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myelin protein zero, hearing impairment, Mice, Inbred C57BL, 030104 developmental biology, Organ of Corti, Mutation, sense organs, Cell Adhesion Molecules
وصف الملف: application/pdf
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