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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAmerican journal of human genetics, 2016-10, Vol.99 (4), p.912-916 [Peer Reviewed Journal]2016 ;Copyright © 2016. Published by Elsevier Inc. ;Copyright Cell Press Oct 6, 2016 ;2016. 2016 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.07.019 ;PMID: 27616480Full text available |
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Comprehensive evaluation of the child with intellectual disability or global developmental delaysPediatrics (Evanston), 2014-09, Vol.134 (3), p.e903-e918 [Peer Reviewed Journal]Copyright © 2014 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Sep 2014 ;Copyright © 2014 by the American Academy of Pediatrics 2014 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2014-1839 ;PMID: 25157020 ;CODEN: PEDIAUFull text available |
| 3 |
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037 [Peer Reviewed Journal]2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics. ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01242-6 ;PMID: 34211152Full text available |
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The Prevalence of Self-injurious Behaviour in Autism: A Meta-analytic StudyJournal of autism and developmental disorders, 2020-11, Vol.50 (11), p.3857-3873 [Peer Reviewed Journal]The Author(s) 2020 ;COPYRIGHT 2020 Springer ;The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-020-04443-1 ;PMID: 32297123Full text available |
| 5 |
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeAmerican journal of human genetics, 2016-05, Vol.98 (5), p.971-980 [Peer Reviewed Journal]2016 The American Society of Human Genetics ;Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 5, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.03.004 ;PMID: 27108797Full text available |
| 6 |
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COVID-19 and people with intellectual disability: impacts of a pandemicIrish Journal of Psychological Medicine, 2020-09, Vol.37 (3), p.231-236 [Peer Reviewed Journal]The Author(s), 2020. Published by Cambridge University Press on behalf of The College of Psychiatrists of Ireland ;The Author(s), 2020. Published by Cambridge University Press on behalf of The College of Psychiatrists of Ireland. This work is licensed under the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020. Notwithstanding the ProQuest Terms and conditions, you may use this content in accordance with the associated terms available at https://www.stm-assoc.org/about-the-industry/coronavirus-2019-ncov/. ;2020. This work is licensed under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;College of Psychiatrists of Ireland 2020 2020 College of Psychiatrists of Ireland ;ISSN: 0790-9667 ;EISSN: 2051-6967 ;DOI: 10.1017/ipm.2020.45 ;PMID: 32404232Digital Resources/Online E-Resources |
| 7 |
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsGenetics in medicine, 2019-04, Vol.21 (4), p.837-849 [Peer Reviewed Journal]2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0268-1 ;PMID: 30206421Full text available |
| 8 |
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The contemporary view of intellectual and developmental disabilities: Implications for psychologistsPsicothema, 2019-08, Vol.31 (3), p.223-228 [Peer Reviewed Journal]COPYRIGHT 2019 Colegio Oficial De Psicologos Del Principado De Asturias ;2019. Notwithstanding the ProQuest Terms and conditions, you may use this content in accordance with the associated terms available at https://www.psicothema.com/PublicationNorms2022.pdf ;ISSN: 0214-9915 ;EISSN: 1886-144X ;DOI: 10.7334/psicothema2019.119 ;PMID: 31292035Full text available |
| 9 |
Material Type: Article
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Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysisMolecular autism, 2019-03, Vol.10 (1), p.9-9, Article 9 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2019 ;ISSN: 2040-2392 ;EISSN: 2040-2392 ;DOI: 10.1186/s13229-019-0260-x ;PMID: 30867896Full text available |
| 10 |
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Intellectual disability genomics: current state, pitfalls and future challengesBMC genomics, 2021-12, Vol.22 (1), p.909-909, Article 909 [Peer Reviewed Journal]2021. The Author(s). ;COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-021-08227-4 ;PMID: 34930158Full text available |
| 11 |
Material Type: Article
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Genomic diagnosis for children with intellectual disability and/or developmental delayGenome medicine, 2017-05, Vol.9 (1), p.43-43, Article 43 [Peer Reviewed Journal]Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-017-0433-1 ;PMID: 28554332Full text available |
| 12 |
Material Type: Article
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Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-AnalysisJournal of autism and developmental disorders, 2017-12, Vol.47 (12), p.3765-3777 [Peer Reviewed Journal]The Author(s) 2016 ;COPYRIGHT 2017 Springer ;Journal of Autism and Developmental Disorders is a copyright of Springer, (2016). All Rights Reserved. ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-016-2909-z ;PMID: 27696186Full text available |
| 13 |
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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic testClinical genetics, 2016-06, Vol.89 (6), p.700-707 [Peer Reviewed Journal]2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12732 ;PMID: 26757139Full text available |
| 14 |
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Persons With Intellectual and Developmental Disabilities in the Mental Health System: Part 1. Clinical ConsiderationsPsychiatric services (Washington, D.C.), 2022-03, Vol.73 (3), p.313-320 [Peer Reviewed Journal]Copyright © 2022 by the American Psychiatric Association 2022 ;Copyright American Psychiatric Publishing, Inc. Mar 2022 ;ISSN: 1075-2730 ;EISSN: 1557-9700 ;DOI: 10.1176/appi.ps.201900504 ;PMID: 34346730Full text available |
| 15 |
Material Type: Article
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Predicting the clinical impact of human mutation with deep neural networksNature genetics, 2018-08, Vol.50 (8), p.1161-1170 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2018 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0167-z ;PMID: 30038395Full text available |
| 16 |
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)Genetics in medicine, 2019-10, Vol.21 (10), p.2355-2363 [Peer Reviewed Journal]The Author(s) 2019. This work is published under http://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0503-4Full text available |
| 17 |
Material Type: Article
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Information and communication technology use in daily life among young adults with mild to moderate intellectual disabilityJournal of intellectual disabilities, 2020-09, Vol.4 (3), p.289 [Peer Reviewed Journal]ISSN: 1744-6309 ;ISSN: 1744-6295 ;EISSN: 1744-6309 ;DOI: 10.1177/1744629518784351Digital Resources/Online E-Resources |
| 18 |
Material Type: Article
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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionAmerican journal of human genetics, 2016-08, Vol.99 (2), p.253-274 [Peer Reviewed Journal]2016 The Author(s) ;Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Aug 4, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 The Author(s) 2016 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.05.030 ;PMID: 27453576Full text available |
| 19 |
Material Type: Article
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Anxiety Disorders in Adults with Autism Spectrum Disorder: A Population-Based StudyJournal of autism and developmental disorders, 2020-01, Vol.50 (1), p.308-318 [Peer Reviewed Journal]The Author(s) 2019 ;COPYRIGHT 2020 Springer ;Journal of Autism and Developmental Disorders is a copyright of Springer, (2019). All Rights Reserved. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0162-3257 ;ISSN: 1573-3432 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-019-04234-3 ;PMID: 31621020Full text available |
| 20 |
Material Type: Article
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The Healthcare and Societal Costs of Familial Intellectual DisabilityInternational journal of environmental research and public health, 2024-03, Vol.21 (3), p.299 [Peer Reviewed Journal]2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2024 by the authors. 2024 ;ISSN: 1661-7827 ;EISSN: 1660-4601 ;DOI: 10.3390/ijerph21030299 ;PMID: 38541298Full text available |
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