المؤلفون: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers

المصدر: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, endocrine system diseases, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Intellectual Disability, Human Phenotype Ontology, mental disorders, Genetics, SNP, Humans, Clinical significance, Abnormalities, Multiple, Copy-number variation, Child, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Chromosome Mapping, Computational Biology, Phenotype, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Severe phenotype, Child, Preschool, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3Test

المؤلفون: Toplak, M.E., Sorge, G.B., Flora, D.B., Chen, W., Banaschewski, T., Buitelaar, J.K., Ebstein, R., Eisenberg, J., Franke, B., Gill, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J.A., Sonuga-Barke, E.J.S., Steinhausen, H.C., Thompson, M., Tannock, R., Asherson, P., Faraone, S.V.

المصدر: Journal of Child Psychology and Psychiatry and Allied Disciplines, 53, 3, pp. 292-303

مصطلحات موضوعية: DCN PAC - Perception action and control IGMD 3: Genomic disorders and inherited multi-system disorders, DCN PAC - Perception action and control NCEBP 9 - Mental health, IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory, psy, edu

العلاقة: http://hdl.handle.net/2066/109833Test

الإتاحة: http://hdl.handle.net/2066/109833Test

المؤلفون: Zhou, K., Chen, W., Buitelaar, J.K., Banaschewski, T., Oades, R.D., Franke, B., Sonuga-Barke, E.J.S., Ebstein, R.P., Eisenberg, J., Gill, M., Manor, I., Miranda, A., Mulas, F., Roeyers, H., Rothenberger, A., Sergeant, J.A., Steinhausen, H.C., Lasky-Su, J., Taylor, E., Brookes, K., Xu, X., Neale, B., Rijsdijk, F., Thompson, M., Asherson, P., Faraone, S.V.

المصدر: American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147B, 8, pp. 1481-7

مصطلحات موضوعية: DCN 1: Perception and Action, DCN 2: Functional Neurogenomics, DCN 3: Neuroinformatics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCEBP 9: Mental health, NCMLS 6: Genetics and epigenetic pathways of disease, UMCN 3.2: Cognitive neurosciences, UMCN 5.1: Genetic defects of metabolism, envir, psy

العلاقة: http://hdl.handle.net/2066/70183Test

الإتاحة: http://hdl.handle.net/2066/70183Test

المؤلفون: Xu, X., Hawi, Z., Brookes, K., Anney, R., Bellgrove, M., Franke, B., Barry, E., Chen, W., Kuntsi, J., Banaschewski, T., Buitelaar, J.K., Ebstein, R.P., Fitzgerald, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J.A., Sonuga-Barke, E.J.S., Steinhausen, H.C., Faraone, S.V., Gill, M., Asherson, P.

المصدر: American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147B, 8, pp. 1564-7

مصطلحات موضوعية: DCN 1: Perception and Action, DCN 2: Functional Neurogenomics, DCN 3: Neuroinformatics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCEBP 9: Mental health, NCMLS 6: Genetics and epigenetic pathways of disease, UMCN 3.2: Cognitive neurosciences, UMCN 5.1: Genetic defects of metabolism, psy, stat

العلاقة: http://hdl.handle.net/2066/71177Test

الإتاحة: http://hdl.handle.net/2066/71177Test

المؤلفون: Anney, R., Hawi, Z., Sheehan, K., Mulligan, A., Pinto, C., Brookes, K., Xu, X., Zhou, K., Franke, B., Buitelaar, J.K., Vermeulen, H.H.M., Banaschewski, T., Sonuga-Barke, E.J.S., Ebstein, R.P., Manor, I., Miranda, A., Mulas, F., Oades, R.D., Roeyers, H., Lambregts-Rommelse, N.N.J., Rothenberger, A., Sergeant, J.A., Steinhausen, H.C., Taylor, E., Thompson, M., Asherson, P., Faraone, S.V., Gill, M.

المصدر: American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147B, 8, pp. 1495-500

مصطلحات موضوعية: DCN 1: Perception and Action, DCN 2: Functional Neurogenomics, DCN 3: Neuroinformatics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCEBP 1: Molecular epidemiology, NCEBP 9: Mental health, NCMLS 6: Genetics and epigenetic pathways of disease, ONCOL 3: Translational research, UMCN 3.2: Cognitive neurosciences, UMCN 5.1: Genetic defects of metabolism, UMCN 5.2: Endocrinology and reproduction, psy

العلاقة: http://hdl.handle.net/2066/71540Test

الإتاحة: http://hdl.handle.net/2066/71540Test

المؤلفون: G Gillessen-Kaesbach, Barbara Plecko, Sabine Uhrig, G. C. Korenke, Stephanie Spranger, Eva Rossier, Gabriele Krüger, A Schulze, Raoul Heller, Wolfram Kress, C Arici, Rainer König, Beyhan Tüysüz, Eva Seemanova, J Mücke, A Buske, Kerstin Kutsche, Denise Horn, Martin Zenker, Dagmar Wieczorek, Heide Seidel, Christoph Hübner, Peter Meinecke, Albert Schinzel, I. van der Burgt, AL Schulz, Beate Albrecht

المساهمون: University of Zurich, Kutsche, K

المصدر: Clinical Genetics, 73, 62-70
Clinical Genetics, 73, 1, pp. 62-70

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Proto-Oncogene Proteins B-raf, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Developmental Disabilities, DNA Mutational Analysis, MAP Kinase Kinase 2, MAP Kinase Kinase 1, 610 Medicine & health, MAP2K2, Biology, medicine.disease_cause, Proto-Oncogene Proteins p21(ras), Genomic disorders and inherited multi-system disorders [IGMD 3], Costello syndrome, 1311 Genetics, MAP2K1, Intellectual Disability, Proto-Oncogene Proteins, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, HRAS, Allele, Child, Genetics (clinical), Mutation, Facies, Syndrome, medicine.disease, Phenotype, Genetic defects of metabolism [UMCN 5.1], Skin Abnormalities, ras Proteins, 570 Life sciences, biology, KRAS

وصف الملف: 08_-_01_Mutation.Costello.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f74f957478e12a8f1bf8d9101a14a7Test