المؤلفون: Annemiek M. Landlust, Linda Visser, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom

المصدر: Frontiers in Psychiatry, Vol 13 (2022)

مصطلحات موضوعية: Phelan-McDermid syndrome, neurodevelopmental phenotype, 22q13 deletion syndrome, behavioral difficulties, intellectual disability, contextual assessments, Psychiatry, RC435-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.836807/fullTest; https://doaj.org/toc/1664-0640Test

الوصول الحر: https://doaj.org/article/40dd49d50c1a43dbbc21288a4adacddeTest

المؤلفون: A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, Andreas M. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Els Kuiper, Annemiek M. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San José Cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne C. Tabet, Roberto Toro, Alison Turner, Ingrid D.C. van Balkom, Griet van Buggenhout, Agnies M. van Eeghen, Conny M.A. van Ravenswaaij-Arts, Sabrina van Weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Margreet Walinga

المصدر: European Journal of Medical Genetics. 66:104747

مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2c4a852d2d5f8c4b560f022c9345f9acTest
https://doi.org/10.1016/j.ejmg.2023.104747Test

المؤلفون: Annemiek M. Landlust, Sylvia A. Koza, Maya Carbin, Margreet Walinga, Sandra Robert, Jennifer Cooke, Klea Vyshka, Ingrid D.C. van Balkom, Conny van Ravenswaaij-Arts

المصدر: European Journal of Medical Genetics. 66:104771

مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dea55cf2e457f2367e7c6640f4ce094aTest
https://doi.org/10.1016/j.ejmg.2023.104771Test

المؤلفون: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

المساهمون: Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, Human Genetics

المصدر: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787Test
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

مصطلحات موضوعية: cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898Test
https://pubmed.ncbi.nlm.nih.gov/33034087Test