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1دورية أكاديمية
المصدر: Journal of Applied Research in Intellectual Disabilities. 2024 37(2).
تمت مراجعته من قبل الزملاء: Y
Page Count: 21
الواصفات: Parents, Disabilities, Parent Attitudes, Psychological Characteristics, Caring, Psychological Patterns, Influences, Content Analysis
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2دورية أكاديمية
المؤلفون: Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri
المصدر: International Journal of Genomics, Vol 2019 (2019)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay R Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne-Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane Lane, Gunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs
المصدر: PLoS ONE, Vol 11, Iss 2, p e0146824 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4743907?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Jenny Downs, Michelle Stahlhut, Kingsley Wong, Birgit Syhler, Anne-Marie Bisgaard, Peter Jacoby, Helen Leonard
المصدر: PLoS ONE, Vol 11, Iss 1, p e0147555 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4723034?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Janni Majgaard, Jensen, Ulla Schierup, Nielsen, Allan, Bayat, Malene Bøgehus, Rasmussen, Rikke Steensbjerre, Møller, Anne Marie, Bisgaard, Trine Bjørg, Hammer
المصدر: Ugeskrift for laeger. 184(34)
مصطلحات موضوعية: Autism Spectrum Disorder, Humans, Genetic Predisposition to Disease, Genetic Testing, Genomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ad2b8ebc0bb45b2211d8985c48c505deTest
https://pubmed.ncbi.nlm.nih.gov/36065862Test -
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المؤلفون: Anne Katrine Højfeldt, Jane Lunding Larsen, Anne Marie Bisgaard, Bitten Schönewolf-Greulich, Kingsley Wong, Gitte Rønde, Michelle Stahlhut, Jenny Downs
المصدر: American Journal of Medical Genetics Part A. 185:3683-3693
مصطلحات موضوعية: Adult, Male, Longitudinal study, Pediatrics, medicine.medical_specialty, Denmark, Longevity, Gross motor skill, Rett syndrome, Scoliosis, Severity of Illness Index, Danish, Epilepsy, Quality of life, Rett Syndrome, Genetics, medicine, Humans, Longitudinal Studies, Genetics (clinical), Motor skill, Aged, business.industry, Middle Aged, medicine.disease, language.human_language, Motor Skills Disorders, Motor Skills, Neurodevelopmental Disorders, language, Female, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfdcb05560914f439b217e585aa4696Test
https://doi.org/10.1002/ajmg.a.62429Test -
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المؤلفون: Jenny Downs, Michelle Stahlhut, Eva Nordmark, Kingsley Wong, Anne Marie Bisgaard
المصدر: Physical Therapy. 100:168-179
مصطلحات موضوعية: Adult, medicine.medical_specialty, Time Factors, Adolescent, Gross motor skill, Psychological intervention, Physical Therapy, Sports Therapy and Rehabilitation, Walking, Goal Attainment Scaling, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Intervention (counseling), Outcome Assessment, Health Care, Rett Syndrome, medicine, Humans, 030212 general & internal medicine, Precision Medicine, Young adult, Child, Exercise, Motor skill, business.industry, Actigraphy, Middle Aged, Motor Skills, Child, Preschool, Quality of Life, Physical therapy, Feasibility Studies, Female, Sedentary Behavior, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895989c481a6c2babdd5ae6ef3972fbfTest
https://doi.org/10.1093/ptj/pzz138Test -
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المؤلفون: Edgard Verdura, Alex MacKenzie, Rolph Pfundt, Tobias B. Haack, Ange Line Bruel, Paulino Gómez-Puertas, Anna C.E. Hurst, Bert B.A. de Vries, Stella A. de Man, Maria Johansson Soller, Bregje W.M. van Bon, Elisabeth Sarrazin, Agustí Rodríguez-Palmero, Stephan Waldmüller, Melanie O’Leary, Anne Sophie Denommé-Pichon, Bitten Schönewolf-Greulich, Joseph T. Shieh, V. A. Bjerregaard, Vahid Bahrambeigi, Malin Kvarnung, Agatha Schlüter, Anne Marie Bisgaard, Ingrid M.B.H. van de Laar, Elisa Giorgio, Lars Feuk, Mieke M. van Haelst, Thomas D. Challman, Ineke van de Burgt, Sulagna Kushary, Simone F. Reiter, David B. Everman, Zeynep Tümer, Giorgia Mandrile, Conny M. A. van Ravenswaaij-Arts, Charles Shaw-Smith, Juliane Hoyer, Chad R. Haldeman-Englert, Lotte Kleinendorst, Bryce A. Mendelsohn, Anna Lindstrand, Christine Coubes, Gea Beunders, Sixto García-Miñaur, Antonio Vitobello, Melissa Maria Boerrigter, Alysia Kern Lovgren, Anya Revah-Politi, Carlos E. Prada, Bertrand Isidor, Elena Repnikova, Stephanie Spranger, Esmée van Drie, Frédéric Tran Mau-Them, Zohra Shad, Ben Pode-Shakked, Aurora Pujol, Christiane Zweier, Bjørn Ivar Haukanes, David Gómez-Andrés, Kathleen A. Leppig, Marta Pacio-Míguez, Motti Shohat, Yuval Landau, Benjamin Cogné, Frances Elmslie, Kimberly A. Aldinger, Anita Rauch, Juliann M. Savatt, Nicolas Gruchy, Sharon Whiting, William B. Dobyns, Thomas J. Dye, Sebastien Moutton, Heidi Thiese, Setareh Moghadasi, Iñigo Marcos-Alcalde, Jenny Morton, Sumit Parikh, María Palomares-Bralo, Stéphanie Arpin, Tracy S. Gertler, Meredith J. Ross, Bernt Popp, Amelie J. Müller, Claudia A. L. Ruivenkamp
المساهمون: Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario Germans Trias I Pujol, Vall d'Hebron University Hospital [Barcelona], Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Department of Molecular and Human Genetics (Baylor College of Medicine), Baylor College of Medecine, Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Clinical Genetics, Human Genetics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-020-01075-9⟩
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, ' DLG4-related synaptopathy : a new rare brain disorder ', Genetics in Medicine, vol. 23, no. 5, pp. 888-899 . https://doi.org/10.1038/s41436-020-01075-9Test
Genetics in Medicine, 23(5), 888-899. Lippincott Williams & Wilkins
Genetics in medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genetics in Medicine. Nature Publishing Group
Genetics in Medicine, 23(5), 888-899. SPRINGERNATURE
Genetics in Medicine, 23, 888-899
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Genetics in Medicine, 23(5), 888-899. Lippincott Williams and Wilkinsمصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Global developmental delay, Exome, Genetics (clinical), Genetics, Brain Diseases, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Brain, medicine.disease, 030104 developmental biology, Phenotype, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Autism spectrum disorder, Neurodevelopmental Disorders, Synaptopathy, DLG4, Postsynaptic density, Disks Large Homolog 4 Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0910c06077f7edaab62257149bc8fa36Test
https://hal-normandie-univ.archives-ouvertes.fr/hal-03193180Test -
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المؤلفون: Morten Duno, Simran Kaur, Meral Topçu, Mette Rokkjaer, Karen Brøndum-Nielsen, Christalena Sofokleous, Lars Kjærsgaard Hansen, Zeynep Tümer, Nicole J Van Bergen, Eirini Tsoutsou, John Christodoulou, Martin Jakob Larsen, Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kristina Pilekær Sørensen, Christina Fagerberg, Cathrine Jespersgaard
المصدر: Schönewolf-Greulich, B, Bisgaard, A-M, Dunø, M, Jespersgaard, C, Rokkjaer, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473Test
Schönewolf-Greulich, B, Bisgaard, A M, Dunø, M, Jespersgaard, C, Rokkjær, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473Testمصطلحات موضوعية: Male, 0301 basic medicine, Methyl-CpG-Binding Protein 2, Biopsy, Methyl-CpG-Binding Protein 2/genetics, Rett syndrome, 030105 genetics & heredity, Biology, medicine.disease_cause, Rett Syndrome/diagnosis, Deep sequencing, MECP2, 03 medical and health sciences, symbols.namesake, Rett Syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Child, Genetic Association Studies, Alleles, Genetics (clinical), Exome sequencing, Genetic testing, Sanger sequencing, Mutation, medicine.diagnostic_test, Mosaicism, Facies, medicine.disease, Phenotype, 030104 developmental biology, NGS, symbols
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfd51298a890631ec601bf85d8dfb79Test
https://doi.org/10.1111/cge.13473Test -
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المؤلفون: Jenny Downs, Bente Appel Esbensen, Anne Marie Bisgaard, Michelle Stahlhut, Jane Lunding Larsen, Eva Nordmark
المصدر: Qualitative Health Research. 29:609-619
مصطلحات موضوعية: Adult, Male, Parents, Occupational therapy, medicine.medical_specialty, Adolescent, Multiple disabilities, Denmark, media_common.quotation_subject, Psychological intervention, Rett syndrome, Health Promotion, Developmental psychology, Interviews as Topic, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rett Syndrome, medicine, Humans, 030212 general & internal medicine, Girl, Child, Exercise, media_common, 030504 nursing, Public Health, Environmental and Occupational Health, Child Day Care Centers, Focus Groups, Middle Aged, medicine.disease, Focus group, Health promotion, Child, Preschool, Female, Thematic analysis, 0305 other medical science, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026d2715f5ecb95ad23917aec6a34ea4Test
https://doi.org/10.1177/1049732318803358Test
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