Results 111 to 120 of about 171,514 (309)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
, 2013 This paper explores two aspects of development in relation to children’s learning: cognitive developmental theories and the human development paradigm. In doing so the aim of the paper is to put forward first a critique of how developmental theories have
Devecchi, Cristina
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The rain feels different under the same umbrella: Experiences with poverty across LGBTQ subgroups
American Journal of Community Psychology, EarlyView.Abstract Population‐based survey data have demonstrated that LGBTQ communities report varying rates of economic insecurity, yet very little research directly assesses how pathways into and experiences with poverty look different among subgroups at the intersections of sexual orientation and gender identity (SOGI).
Bianca D. M. Wilson, Lillian Nguyen
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde +12 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Analysis of activity of health workers in educational organizations and needs for medical care of children with disabilities [PDF]
Саратовский научно-медицинский журнал, 2017 Objective: study of the current state of medical support for children in educational organizations and an assessment of the needs of children with disabilities in medical care. Material and Methods.
Fomina A.V. +2 more
doaj
Parents´assessment of disability in their children: Assessment of disability
, 2022 Parents to originally 332 children with disability have been interviewed and have scored on questionnaires altogether four times over a period of 6 years. The WHO International Classification of Functions, Child and Youth version (ICF-CY) coding system and the Nordic Five-To-Fifteen Questionnaire have been employed.
openaire +2 more sources
Serum uric acid, hyperuricemia and body mass index in children and adolescents with intellectual disabilities [PDF]
, 2012 [[abstract]]The aims of the preset study were to describe the profile of serum uric acid, the prevalence of hyperuricemia and its risk factors among children and adolescents with intellectual disabilities.
Lin), (Jin-Ding;Lin), (Pei-Ying;Lin), (Lan-Ping;Hsu), 徐尚為(Shang-Wei;Yen), (Chia-Feng;Fang), (Wen-Hui;Wu), (Sheng-Ru;Chien), (Wu-Chien;Loh), (Ching-Hui;(Cordia, M.Chu)
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35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
, 2016 Occupational injustice refers to a setting or situations that can restrict a person in performing an occupation. Because a playground is a setting that can restrict children with disabilities from the occupation of playing, this paper frames playground ...
Prellwitz, Maria,, Skär, Lisa,
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