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1دورية أكاديمية
المؤلفون: Kirstin Greaves-Lord, Manna Alma, Benjamin de Graaff, Jeanet Landsman, Klaske van der Weide, Gabrine Jagersma, Theo Beskers, Marieke Wubs, Henri Mandemaker, Emma van Daalen, Joost van der Linde, Anne Fleur Stapert, Jeroen Bekius, Sigrid Piening, Annemiek Landlust, Ingrid D. C. van Balkom
المصدر: Frontiers in Psychology, Vol 14 (2023)
مصطلحات موضوعية: immobility, autism, inertia, activation, inclusive society/spaces, Psychology, BF1-990
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sigrid Piening, Ingrid D. C. van Balkom, Anne Fleur Stapert, Daria Henning, Kirstin Greaves-Lord, Lineke R. C. D. Davids, Stynke Castelein, Yvonne Groen
المصدر: MDPI, IJERPH. 20(24):1-16
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المصدر: Wetenschappelijk Tijdschrift Autisme. 20
مصطلحات موضوعية: mental disorders, behavioral disciplines and activities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d00c59088e77df29a58570eab11390d
https://doi.org/10.36254/wta.2021.2.02 -
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المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf
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المؤلفون: Sigrid Piening, Wiljo van Hout, Allies Hoogma, Leonike Vet, Anne-Marie Huyghen, Leonie Kreuze, Inge van Balkom
المساهمون: Ontwikkelings- en Gedragsstoornissen in Onderwijs en Zorg: Assessment en Interventie, Experimental Psychotherapy & Psychopathology
المصدر: Wetenschappelijk Tijdschrift Autisme, 20(2), 2-22
مصطلحات موضوعية: mental disorders, behavioral disciplines and activities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2de4740063a282fe72feb8495d1809
https://research.rug.nl/en/publications/5bc1fea4-b297-44cc-84bc-1a5a62349d4e -
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المؤلفون: Raoul C.M. Hennekam, Sigrid Piening, Ingrid D. C. van Balkom, Paul A. Mulder, Sylvia A. Huisman, Chris Oliver
المصدر: Developmental medicine and child neurology. 59(4):361-366
مصطلحات موضوعية: Cornelia de Lange Syndrome, media_common.quotation_subject, MEDLINE, Context (language use), Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Developmental Neuroscience, De Lange Syndrome, medicine, Humans, 0501 psychology and cognitive sciences, Quality (business), media_common, Mental Disorders, 05 social sciences, Cognition, medicine.disease, Databases, Bibliographic, Pediatrics, Perinatology and Child Health, Assessment methods, Quality of Life, Autism, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology
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المؤلفون: Sigrid Piening, Inge van Balkom, Yvonne Groen, Kirstin Greaves-Lord, Stynke Castelein, Stapert, Anne F., Euser, Anne M., Davids, Roeliena C. D.
المساهمون: Neuropsychology across the Life-Span, Experimental Psychotherapy & Psychopathology
المصدر: Congres Gender & Gezondheid 2017
University of Groningenوصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::52e1cc696c6ae030822bcf216028e712
https://research.rug.nl/en/publications/b065e7aa-f148-4363-88f8-3b266df89562 -
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المؤلفون: Egbert J.W. Redeker, Annemiek Landlust, Mariet W. Elting, Jo Moss, Yvonne Hilhorst-Hofstee, Juan Pié, Saskia M. J. Hopman, Rieneke Vorstenbosch, Ingrid D. C. van Balkom, Angelo Selicorni, Anne Marie Bisgaard, Sandra Jansen, Chris Oliver, Caroline Michot, Sylvia A. Huisman, Maninder Kaur, Ilaria Parenti, Katta M. Girisha, Zeynep Tümer, Ingrid Bader, Matthew A. Deardorff, Claudine Rieubland, Davor Lessel, Sigrid Piening, Mala Isrie, Denise Horn, Paul A. Mulder, Constanza Cinca, Tara L. Wenger, Cathrine Jespersgaard, Jolanta Wierzba, Karin E. M. Diderich, Phillis Lakeman, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Anthonie J. van Essen, Alice S. Brooks, Raoul C.M. Hennekam, Frank J. Kaiser, Ian D. Krantz, Feliciano J. Ramos, Tjitske Kleefstra, David R. FitzPatrick, Sarah E. Noon, Anna Cereda, Silvia Russo, Dinah Clark, Valérie Cormier-Daire
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Erasmus MC other, Paediatric Genetics, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Oncology, APH - Quality of Care, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Medical Genetics Part A, 173(8), 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cornelia de Lange Syndrome, Cohesin complex, Adolescent, Chromosomal Proteins, Non-Histone, Rett syndrome, Cell Cycle Proteins, Biology, NIPBL, 03 medical and health sciences, Young Adult, SMC1A, De Lange Syndrome, syndrome delineation, medicine, Genetics, Missense mutation, Humans, Exome, Genetics(clinical), Child, 610 Medicine & health, Genetics (clinical), Exome sequencing, Netherlands, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], behavior, Infant, Newborn, Infant, Proteins, self-injurious behavior, Middle Aged, medicine.disease, Brachmann-De Lange syndrome, Phenotype, Cornelia de Lange syndrome, 030104 developmental biology, Child, Preschool, severity score, Spasms, Infantile
وصف الملف: application/msword; application/pdf
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المؤلفون: Sigrid Piening, Peter G. M. Mol, Pieter A. de Graeff, Sabine M. J. M. Straus, Flora M. Haaijer-Ruskamp
المساهمون: Methods in Medicines evaluation & Outcomes research (M2O), Medical Informatics
المصدر: Drug Safety, 36(9), 723-731. ADIS INT LTD
Drug Safety, 36(9), 723-731. Adisمصطلحات موضوعية: Drug, Adult, Male, medicine.medical_specialty, STRATEGIES, IMPACT, Attitude of Health Personnel, media_common.quotation_subject, Pegaptanib, Alternative medicine, DEAR DOCTOR LETTERS, Computer-assisted web interviewing, Toxicology, REGULATORY ACTION, law.invention, Macular Degeneration, Randomized controlled trial, law, RISK COMMUNICATION, Physicians, medicine, Adverse Drug Reaction Reporting Systems, Humans, Pharmacology (medical), media_common, Pharmaceutical industry, Netherlands, Pharmacology, PERCEPTION, Health professionals, Electronic Mail, business.industry, ANTIBIOTIC USE, PHARMACEUTICAL-INDUSTRY, Communication, Aptamers, Nucleotide, Middle Aged, Ophthalmology, CLINICAL-PRACTICE, Family medicine, Population study, Female, business, medicine.drug
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المؤلفون: de Pieter Graeff, Peter G. M. Mol, Sigrid Piening, Sabine M. J. M. Straus, Jaap E. Wieringa, K. Reber, Flora M. Haaijer-Ruskamp
المساهمون: Medical Informatics, Science in Healthy Ageing & healthcaRE (SHARE), Research Programme Marketing, Methods in Medicines evaluation & Outcomes research (M2O)
المصدر: Clinical Pharmacology & Therapeutics, 91(5), 838-845. Wiley-Blackwell
Clinical Pharmacology & Therapeutics, 91(5), 838-845. Nature Publishing Groupمصطلحات موضوعية: Drug, medicine.medical_specialty, Drug-Related Side Effects and Adverse Reactions, media_common.quotation_subject, MEDLINE, TIME-SERIES, Ambulatory care, MANAGEMENT, Ambulatory Care, Humans, Medicine, Pharmacology (medical), Longitudinal Studies, CISAPRIDE, Medical prescription, Netherlands, media_common, RISK, Pharmacology, Health professionals, CONTRACEPTIVE USE, business.industry, MEDICATIONS, WARNINGS, Interrupted time series, Regression analysis, medicine.disease, Confidence interval, WITHDRAWALS, Emergency medicine, PATTERNS, Drug and Narcotic Control, Medical emergency, INHIBITORS, business
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