المساهمون: Fidler, Deborah J.

مصطلحات موضوعية: Disabled Children., Developmental Disabilities -- genetics., Children with disabilities -- Development., Nervous system -- Diseases -- Genetic aspects., Neurogenetics.

المؤلفون: Cornish, Kim.

المساهمون: Wilding, John M.

مصطلحات موضوعية: Developmental disabilities -- Genetic aspects., Attention., Attention-deficit hyperactivity disorder -- Genetic aspects., Attention Deficit Disorder with Hyperactivity -- genetics., Adolescent Development., Child Development., Developmental Disabilities -- genetics., Genetic Diseases, Inborn -- genetics.

المساهمون: Barnes, Marcia A., 1958-

مصطلحات موضوعية: Developmental disabilities -- Genetic aspects., Neurologic manifestations of general diseases., Genetic disorders., Psychophysiology -- Genetic aspects., Developmental Disabilities -- genetics., Brain -- growth & development., Genetic Diseases, Inborn., Human Development., Models, Neurological.

المساهمون: Butler, Merlin Gene, 1952-, Meaney, F. John.

مصطلحات موضوعية: Child., Infant., Intellectual Disability., Developmental Disabilities -- genetics., Chromosome Aberrations., Developmental Disabilities., Developmental disabilities -- Genetic aspects.

المؤلفون: David R. FitzPatrick, T. I. Simpson, T. M. Yates, A. Lain, J. Campbell

المصدر: Yates, M, Lain, A, Campbell, J, FitzPatrick, D R & Simpson, T I 2022, ' Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders ', Database: The Journal of Biological Databases and Curation, vol. 2022, baac038 . https://doi.org/10.1093/database/baac038

مصطلحات موضوعية: Databases, Factual, Computer science, Developmental Disabilities, Locus (genetics), Data Mining/methods, computer.software_genre, General Biochemistry, Genetics and Molecular Biology, Human Phenotype Ontology, Feature (machine learning), Data Mining, Humans, Expressivity (genetics), Child, Categorical variable, Receiver operating characteristic, business.industry, Publications, Gold standard (test), ROC Curve, Allelic heterogeneity, Artificial intelligence, business, General Agricultural and Biological Sciences, computer, Natural language processing, Developmental Disabilities/genetics, Information Systems

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07abeb6b4ff211e1a80388aa5802994f
https://doi.org/10.1093/database/baac038

المؤلفون: Marcella Zollino, Bernt Popp, Charlotte Brasch-Andersen, Jakob Ek, Giuseppe Marangi, Lotte Nylandsted Krogh, Laura Roos, Pernille Mathiesen Tørring, Tina Duelund Hjortshøj, Lone W. Laulund, Niels Ove Illum, Maria Kibaek, Naja Becher, Ulrike Dunkhase-Heinl, Christina Fagerberg, Antje Wiesener, Ida Vogel, Martin Jakob Larsen

المصدر: Tørring, P M, Larsen, M J, Brasch-Andersen, C, Krogh, L N, Kibæk, M, Laulund, L, Illum, N, Dunkhase-Heinl, U, Wiesener, A, Popp, B, Marangi, G, Hjortshøj, T D, Ek, J, Vogel, I, Becher, N, Roos, L, Zollino, M & Fagerberg, C R 2019, ' Is MED13L-related intellectual disability a recognizable syndrome? ', European Journal of Medical Genetics, vol. 62, no. 2, pp. 129-136 . https://doi.org/10.1016/j.ejmg.2018.06.014

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Developmental delay, Craniofacial Abnormalities/genetics, Developmental Disabilities, media_common.quotation_subject, Nonsense, Intellectual disability, Settore MED/03 - GENETICA MEDICA, Frameshift mutation, Craniofacial Abnormalities, symbols.namesake, Intellectual Disability, Genetics, medicine, Macroglossia, MED13L haploinsufficiency syndrome, Humans, Preschool, Child, Genetics (clinical), Exome sequencing, media_common, Sanger sequencing, Mediator Complex, business.industry, Syndrome, General Medicine, MED13L-related intellectual disability, medicine.disease, Intellectual Disability/genetics, MED13L, Macrostomia, Phenotype, Child, Preschool, Mutation, symbols, Autism, Female, medicine.symptom, Mediator Complex/genetics, business, Developmental Disabilities/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df02d1ca3067d0aa615905c15a68fdc2
https://doi.org/10.1016/j.ejmg.2018.06.014

المؤلفون: Matthew D. C. Neville, Caroline F. Wright, Hilary C. Martin, Kaitlin E. Samocha, Alejandro Sifrim, Nadia Akawi, David R. FitzPatrick, Giuseppe Gallone, Mari Niemi, Jeremy F. McRae, Helen V. Firth, Deciphering Developmental Disorders Study, Eugene J. Gardner, Ana Lisa Taylor Tavares, Joanna Kaplanis, Ruth Y. Eberhardt, Matthew E. Hurles

المساهمون: Martin, Hilary C [0000-0002-4454-9084], Gardner, Eugene J [0000-0001-9671-1533], Samocha, Kaitlin E [0000-0002-1704-3352], Eberhardt, Ruth Y [0000-0001-6152-1369], Tavares, Ana Lisa Taylor [0000-0001-7089-0502], Neville, Matthew DC [0000-0001-5816-7936], Niemi, Mari EK [0000-0003-0696-6175], Wright, Caroline F [0000-0003-2958-5076], Hurles, Matthew E [0000-0002-2333-7015], Apollo - University of Cambridge Repository, Data Science Genetic Epidemiology Lab, Institute for Molecular Medicine Finland, University of Helsinki

المصدر: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Deciphering Developmental Disorders Study 2021, ' The contribution of X-linked coding variation to severe developmental disorders ', Nature Communications, vol. 12, no. 1, 627 . https://doi.org/10.1038/s41467-020-20852-3

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Multifactorial Inheritance, Developmental Disabilities, Inheritance Patterns, Inference, General Physics and Astronomy, VARIANTS, Genetic Diseases, X-Linked/genetics, 0302 clinical medicine, Genes, X-Linked, Missense mutation, Statistical analysis, Genetics, 0303 health sciences, Sex Characteristics, Multidisciplinary, Medical genetics, Neurodevelopmental disorders, Inheritance (genetic algorithm), 1184 Genetics, developmental biology, physiology, Genetic Diseases, X-Linked, Variation (linguistics), Phenotype, Female, TRAITS, medicine.medical_specialty, GENES, Mutation/genetics, Science, Genes, Recessive, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Chromosomes, Human, X/genetics, Genetic variation, medicine, X-linked disorders, Humans, Multifactorial Inheritance/genetics, Gene, 030304 developmental biology, Genetic association study, Chromosomes, Human, X, IDENTIFICATION, Genetic Variation, General Chemistry, X chromosome burden analysis, medicine.disease, FRAMEWORK, Inheritance Patterns/genetics, Developmental disorder, INDIVIDUALS, 030104 developmental biology, DISCOVERY, Mutation, NOVO MUTATIONS, 3111 Biomedicine, 030217 neurology & neurosurgery, Developmental disorder rates, MENTAL-RETARDATION, Developmental Disabilities/genetics, Coding (social sciences)

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f7ce6aa3e38d977912db1eeda30114
https://www.repository.cam.ac.uk/handle/1810/318196

المؤلفون: Sofia Dória, Miguel Leão, Joel Pinto, Daniela Alves, Maria João Pinho

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Developmental Disabilities, Case Report, Chromosomes, Human, Pair 12 / genetics, Overgrowth, 0302 clinical medicine, Gene duplication, Chromosome Duplication, 12q14 microduplication, 12q14 microdeletion, Genetics (clinical), Exome sequencing, Genetics, medicine.diagnostic_test, Microdeletion syndrome, Interleukin-1 Receptor-Associated Kinases, 030220 oncology & carcinogenesis, Child, Preschool, Failure to thrive, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 9, Adult, lcsh:Internal medicine, HMGA2, lcsh:QH426-470, Adolescent, Methionine Sulfoxide Reductases / genetics, HMGA2 Protein / genetics, Biology, 03 medical and health sciences, medicine, Humans, Interleukin-1 Receptor-Associated Kinases / genetics, Obesity, lcsh:RC31-1245, Developmental Disabilities / pathology, Chromosomes, Human, Pair 12, HMGA2 Protein, Infant, Human genetics, lcsh:Genetics, 030104 developmental biology, Methionine Sulfoxide Reductases, Chromosomes, Human, Pair 9 / genetics, Developmental Disabilities/ genetics, Fluorescence in situ hybridization, Comparative genomic hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0898cb5bb99913396bf9e5a05b5bc2da
http://europepmc.org/articles/PMC6942376

المؤلفون: Gerrard, Dave T., Berry, Andrew A., Jennings, Rachel E., Birket, Matthew J., Zarrineh, Peyman, Garstang, Myles G., Withey, Sarah L., Short, Patrick, Jiménez-Gancedo, Sandra, Firbas, Panos, Donaldson, Ian J., Sharrocks, Andrew D., Piper Hanley, Karen, Hurles, Matthew E., Gómez-Skarmeta, José Luis, Bobola, Nicoletta, Hanley, Neil A.

المساهمون: Wellcome, Fundació La Marató de TV3

المصدر: Nature Communications
Gerrard, D T, Berry, A, Jennings, R, Birket, M, Zarrineh, P, Garstang, M, Withey, S, Short, P, Jiménez-Ganced, S, Firbas, P N, Donaldson, I, Sharrocks, A, Piper Hanley, K, Hurles, M E, Gomez-Skarmeta, J L, Bobola, N & Hanley, N 2020, ' Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders ', Nature Communications, vol. 11, no. 1, 3920, pp. 3920 . https://doi.org/10.1038/s41467-020-17305-2
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Science, Developmental Disabilities, Organogenesis, General Physics and Astronomy, 02 engineering and technology, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Epigenesis, Genetic, Animals, Genetically Modified, 03 medical and health sciences, Databases, Genetic, Animals, Humans, Transcription Factors/metabolism, Tissue Distribution, Link (knot theory), lcsh:Science, Promoter Regions, Genetic, Zebrafish, Epigenomics, Multidisciplinary, Organogenesis/genetics, Models, Genetic, Gene Expression Regulation, Developmental, General Chemistry, 021001 nanoscience & nanotechnology, Histone Code, 030104 developmental biology, Enhancer Elements, Genetic, Mutation, lcsh:Q, Zebrafish/embryology, Anatomy, 0210 nano-technology, Neuroscience, Histone Code/genetics, Developmental Disabilities/genetics, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f30b91a04248ce2af21ba27666f9fbb
http://hdl.handle.net/10261/226280

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977
https://urn.nsk.hr/urn:nbn:hr:105:093095