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Browsing by Subject "Intellectual disability"

Browsing by Subject "Intellectual disability"

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    Child protection, disability and obstetric violence : three case studies from iceland 
    Rice, James Gordon; Bjargardóttir, Helga Baldvins; Sigurjónsdóttir, Hanna Björg (2020-12-28)
    This contribution is a collective re-analysis of three research projects in Iceland focused on parenting with a disability which draws upon data spanning a twenty-year period. The core purpose of these projects is to understand why parents with primarily ...
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    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 
    Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Björnsson, Hans Tómas; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth (2021-07)
    Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results: ...
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    Genetics of neurodevelopmental disorders: Effects of rare sequence variants on brain structure and function 
    Walters, Guðmundur Bragi (University of Iceland, School of Health Sciences, Faculty of Medicine, 2023-06)
    Introduction and aims: Development of the nervous system is a complex and highly regulated process that, when impaired, can result in a multitude of disorders of varying behavioural, cognitive, and functional severity. Variation in brain structure and ...
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    Prenatal Maternal Bereavement and Its Association With Intellectual Disability in the Offspring 
    Su, Xiujuan; Yu, Yongfu; Meng, Lulu; Duan, Tony; Zhao, Yan; László, Krisztina D.; Valdimarsdóttir, Unnur Anna; Hua, Jing; Li, Jiong (2021-10-01)
    OBJECTIVE: This study aimed to examine the association of a mother's loss of a close relative before or during pregnancy with intellectual disability (ID) in the offspring. METHODS: We performed a nationwide population-based cohort study based on Danish ...
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    ‘Evidence’ of Neglect as a Form of Structural Violence: Parents with Intellectual Disabilities and Custody Deprivation 
    Sigurjónsdóttir, Hanna Björg; Rice, James (Cogitatio, 2018-05-17)
    This contribution draws upon the findings from a multi-year project in Iceland entitled Family Life and Disability. One goal of the project was to analyse whether or not parents with intellectual disabilities (ID) experienced differential treatment in ...