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1دورية أكاديمية
المؤلفون: Charlotte E. Butter, Caitlin L. Goldie, Jessica H. Hall, Kathy Leadbitter, Emma M.M. Burkitt, Marianne B.M. van den Bree, Jonathan M. Green
المصدر: BMC Psychology, Vol 12, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, Qualitative, Children, Families, Neurodevelopmental, Psychology, BF1-990
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-7283Test
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2دورية أكاديمية
المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K
المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 183(6)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female, Heterozygote, Humans, Intellectual Disability, Language, Male, Middle Aged, Siblings, Speech, Verbal Behavior, Young Adult, 16p11, deletion, duplication, autism, genetics, language profiles, 16p11.2 deletion, 16p11.2 duplication, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6h67t169Test
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3دورية أكاديمية
المصدر: Folia Medica, Vol 63, Iss 1, Pp 138-141 (2021)
مصطلحات موضوعية: 16p11.2 duplication, array CGH, autistic behavior, Medicine
وصف الملف: electronic resource
العلاقة: https://foliamedica.bg/article/52763/download/pdfTest/; https://foliamedica.bg/article/52763/download/xmlTest/; https://foliamedica.bg/article/52763Test/; https://doaj.org/toc/1314-2143Test
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4دورية أكاديمية
المؤلفون: Butter, Charlotte e., Goldie, Caitlin l., Hall, Jessica h., Leadbitter, Kathy, Burkitt, Emma m.m., Van den bree, Marianne b.m., Green, Jonathan m.
المصدر: Butter , C E , Goldie , C L , Hall , J H , Leadbitter , K , Burkitt , E M M , Van den bree , M B M & Green , J M 2024 , ' Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis ' , BMC Psychology , vol. 12 , no. 1 . https://doi.org/10.1186/s40359-024-01609-9Test
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, Qualitative, Children, Families, Neurodevelopmental, Support, Experiences, Autism, Overshadowing
الإتاحة: https://doi.org/10.1186/s40359-024-01609-9Test
https://research.manchester.ac.uk/en/publications/9d83e6f2-0090-4bd4-8d48-1953a1c49bb9Test -
5دورية أكاديمية
المؤلفون: Tien-Yu Yao, Wan-Ju Wu, Kim-Seng Law, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma
المصدر: Diagnostics; Volume 11; Issue 8; Pages: 1457
مصطلحات موضوعية: sSMC(16), mosaicism, chromosome microarray analysis, chromosome 16p11.2 duplication syndrome, prenatal counseling, prenatal diagnosis
وصف الملف: application/pdf
العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11081457Test
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6دورية أكاديمية
المؤلفون: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
مصطلحات موضوعية: 9p24.3 duplication, 15q11.2 duplication, 16p11.2 duplication, developmental delay, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.1592Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/c39f0340496b406a9ef17015c48721c8Test
الإتاحة: https://doi.org/10.1002/mgg3.1592Test
https://doaj.org/article/c39f0340496b406a9ef17015c48721c8Test -
7دورية أكاديمية
المؤلفون: Posar A, Visconti P.
المساهمون: Posar A, Visconti P.
مصطلحات موضوعية: 16p11.2 duplication, Autism spectrum disorder, Genetic, Intellectual disability, Neuro-behavioral phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33086486; info:eu-repo/semantics/altIdentifier/wos/WOS:000584253400001; volume:7; issue:10; firstpage:1; lastpage:7; numberofpages:7; journal:CHILDREN; https://hdl.handle.net/11585/776276Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116236364; https://www.mdpi.com/2227-9067/7/10/190Test
الإتاحة: https://doi.org/10.3390/children7100190Test
https://hdl.handle.net/11585/776276Test
https://www.mdpi.com/2227-9067/7/10/190Test -
8دورية أكاديمية
المؤلفون: Oliva-Teles, N, De Stefano, MC, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, AJ, Kodra, Y, Skuse, D
المصدر: International Journal of Environmental Research and Public Health , 17 (24) , Article 9253. (2020)
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118488/1/ijerph-17-09253-v2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118488Test/
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9دورية أكاديمية
المؤلفون: Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer, Adrian J. Harwood, Yllka Kodra, David Skuse
المصدر: International Journal of Environmental Research and Public Health; Volume 17; Issue 24; Pages: 9253
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Environmental Health; https://dx.doi.org/10.3390/ijerph17249253Test
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10دورية أكاديمية
المؤلفون: Annio Posar, Paola Visconti
المصدر: Children; Volume 7; Issue 10; Pages: 190
مصطلحات موضوعية: autism spectrum disorder, intellectual disability, neuro-behavioral phenotype, genetics, 16p11.2 duplication
وصف الملف: application/pdf
العلاقة: Child Neurology; https://dx.doi.org/10.3390/children7100190Test
النص الكامل