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1
المؤلفون: S, Castelein, J, Bruins, I D C, van Balkom
المصدر: Tijdschrift voor psychiatrie. 63(4)
مصطلحات موضوعية: Mental Health Services, Mental Health, SARS-CoV-2, Outpatients, COVID-19, Humans, Autistic Disorder, Netherlands
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2
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.12787
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-Blackwellمصطلحات 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
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3
المؤلفون: Pieter J. Vuijk, M. Franssens, Adam Shaw, I. D. C. van Balkom, Hans W. Hoek, Raoul C.M. Hennekam
المصدر: Journal of Intellectual Disability Research. 55:973-987
مصطلحات موضوعية: Psychomotor learning, Rehabilitation, Cognition, medicine.disease, Child development, Developmental psychology, Psychiatry and Mental health, Neurology, Arts and Humanities (miscellaneous), Social cognition, Intellectual disability, Cognitive development, medicine, Autism, Neurology (clinical), Psychology, Mental age
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4
المؤلفون: E P, van der Laan, A M, Euser, I D C, van Balkom
المصدر: Tijdschrift voor psychiatrie. 57(7)
مصطلحات موضوعية: Young Adult, Adaptation, Psychological, Personal Autonomy, Quality of Life, Humans, Female, Autistic Disorder
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5
المؤلفون: I. D. C. Van Balkom, Raoul C.M. Hennekam
المساهمون: Other departments
المصدر: Journal of medical genetics, 31(4), 321-324. BMJ Publishing Group
مصطلحات موضوعية: Adenoma, Adult, Male, Adolescent, business.industry, Neoplasms, Second Primary, Syndrome, Sweat Gland Neoplasms, Cell Transformation, Neoplastic, Sex Factors, Head and Neck Neoplasms, Genetics, Medicine, Humans, Female, Age of Onset, business, Hearing Loss, Genetics (clinical), Research Article
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6
المؤلفون: I D C, van Balkom, A, Shaw, P J, Vuijk, M, Franssens, H W, Hoek, R C M, Hennekam
المصدر: Journal of intellectual disability research : JIDR. 55(10)
مصطلحات موضوعية: Male, Neurologic Examination, Bone Diseases, Developmental, Adolescent, Communication, Developmental Disabilities, DNA Mutational Analysis, Child Behavior Disorders, Neuropsychological Tests, Personality Assessment, Prognosis, Craniofacial Abnormalities, NFI Transcription Factors, Phenotype, Septo-Optic Dysplasia, Child, Preschool, Intellectual Disability, Adaptation, Psychological, Humans, Abnormalities, Multiple, Female, Autistic Disorder, Child
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7
المؤلفون: Raoul C.M. Hennekam, I. D. C. Van Balkom, S. Quartel
المساهمون: Other departments
المصدر: American journal of medical genetics, 75(3), 273-276. Wiley-Liss Inc.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Coarse face, Abnormal breathing, Medicine, Rett syndrome, Pitt–Hopkins syndrome, business, medicine.disease, Genetics (clinical), Child health, Joubert syndrome