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10541“…RESULTS: The 16p13.11 duplication is associated with a variable clinical spectrum including behavioral disorders, attention deficit/ hyperactivity disorder, intellectual disability, cardiac and skeletal malformation, epilepsy as well as ASD and language delay presented by our patient. …”
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10542por Smolen, Kali A., Papke, Cinta M., Swingle, Mark R., Musiyenko, Alla, Li, Chenchen, Salter, E. Alan, Camp, Ashley D., Honkanen, Richard E., Kettenbach, Arminja N.“…Genetic germline variants of PPP2R5D (encoding: phosphoprotein phosphatase 2 regulatory protein 5D) result in PPP2R5D-related disorder (Jordan’s Syndrome), which is characterized by intellectual disability, hypotonia, seizures, macrocephaly, autism spectrum disorder, and delayed motor skill development. …”
Publicado 2023
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10543por Bulduk, Tuba“…In the present study, the purpose was to summarize the intellectual structure of the subject, uncover the global productivity in this respect, and identify the latest research trends by performing a bibliometric analysis of the articles published on AA. …”
Publicado 2023
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10544por Campillo, M., Rius, L., Garcia, S., Olivero, M., Sanchez Tomico, G., Martinez Garcia, M., Garcia Velasco, I., Monserrat, C., Pratdesava, A., Sanchez, R.“…The patients with dementia disorder and intellectual disability where excluded from the study. …”
Publicado 2023
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10545“…Attentional bias was measured using a dot-probe task. Illiteracy, intellectual or developmental disability, and being a non-native Turkish speaker were the exclusion criteria for all three groups. …”
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10546por Sumathipala, Sureni H., Khan, Suha, Kozol, Robert A., Araki, Yoichi, Syed, Sheyum, Huganir, Richard L., Dallman, Julia E.“…BACKGROUND AND AIMS: SYNGAP1 disorder is a prevalent genetic form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by de novo or inherited mutations in one copy of the SYNGAP1 gene. …”
Publicado 2023
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10547“…INTRODUCTION: Fetal alcohol spectrum disorders (FASD) are the leading preventable cause of intellectual disability, providing the impetus for evaluating various potential treatments to ameliorate ethanol’s teratogenic effects, particularly in the nervous system. …”
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10548por Dhar, Debjyoti, Holla, Vikram V, Kumari, Riyanka, Sriram, Neeharika, Saini, Jitender, Yadav, Ravi, Pandey, Akhilesh, Kamble, Nitish, Muthusamy, Babylakshmi, Pal, Pramod Kumar“…Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. …”
Publicado 2023
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10549por Bonaglia, Maria Clara, Salvo, Eliana, Sironi, Manuela, Bertuzzo, Sara, Errichiello, Edoardo, Mattina, Teresa, Zuffardi, Orsetta“…This study aimed to provide a molecular diagnosis to a boy with Marfan syndrome (MFS) and intellectual disability (ID) carrying a de novo translocation involving chromosomes 3, 4, and 13 and a 1.7 Mb deletion at the breakpoint of chromosome 3. …”
Publicado 2023
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10550“…INTRODUCTION: The neurodevelopmental disorder fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability associated with autism spectrum disorder. …”
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10551por Matovu, Brian, Baluka, Jackline Winfred, Takuwa, Mercy, Namuli, Lucy Kevin, Mpaata, Charles Norman, Mugaga, Julius, Mulindwa, Benedict, Nalwoga, Racheal, Wolters, Maria K, Ssekitoleko, Robert Tamale“…Very few innovators had established companies, and/or acquired intellectual property. It is evident from similar studies that challenges in medical device translations are multidimensional, and hence interdisciplinary collaborations are key to accelerating translation processes, especially for LMICs. …”
Publicado 2023
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10552Publicado 2018“…. - in the compulsory subjects shows perceiving the intellectual and systematic hegemony of the Western medical science and satisfying the demand of the colonial power. …”
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10553por Li, Qian, Li, Yanmei, Zheng, Juan, Yan, Xiaofang, Huang, Jitian, Xu, Yingxia, Zeng, Xia, Shen, Tianran, Xing, Xiaohui, Chen, Qingsong, Yang, Wenhan“…The prevalence of any developmental disabilities in individuals was 16.65% (95% CI 16.03–17.26%), prevalence of attention deficit/hyperactivity disorder (ADHD), learning disability (LD), autism spectrum disorder (ASD), intellectual disability (ID), and other developmental delay were 9.57% (95% CI 9.09–10.06%), 7.45% (95% CI 7.00–7.89%), 2.94% (95% CI 2.67–3.21%), 1.72% (95% CI 1.51–1.93%), and 5.24% (95% CI 4.89–5.59%), respectively. …”
Publicado 2023
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10554por Venkatesan, Sridevi, Binko, Mary A., Mielnik, Catharine A., Ramsey, Amy J., Lambe, Evelyn K.“…Glutamatergic NMDA receptors (NMDAR) are critical for cognitive function, and their reduced expression leads to intellectual disability. Since subpopulations of NMDARs exist in distinct subcellular environments, their functioning may be unevenly vulnerable to genetic disruption. …”
Publicado 2023
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10555“…Our findings revealed that mechanisms underlying placebo and/or nocebo effects have been characterised, at least in part, for: pain, non-noxious somatic sensation, Parkinson’s disease, migraine, sleep disorders, intellectual disability, depression, anxiety, dementia, addiction, gynaecological disorders, attention-deficit hyperactivity disorder, immune and endocrine systems, cardiovascular and respiratory systems, gastrointestinal disorders, skin diseases, influenza and related vaccines, oncology, obesity, physical and cognitive performance. …”
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10556“…RESULTS: 62 completed FCNAs were obtained for the two periods from family carers across five care groups: carers of: older persons, person with dementia, person with mental health difficulties, person with physical and sensory difficulties and a person with an intellectual disability. At baseline, 51% of carers felt too exhausted to carry out normal day-to-day activities on a regular basis, 52% feel little interest or pleasure on an ongoing basis, 67% feel anxious, restless or uneasy and 67% indicated that they experienced major life stresses in the last 90 days. …”
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10557“…The health outcomes contributing more were intellectual disability (men) and type 2 diabetes (women). …”
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10558“…We focus on socioeconomic status, gender, disability, age, culture and ethnicity, and footwear quality; we also highlight the potential impact of the Covid-19 pandemic and the cost-of-living crisis on foot health inequities; rises in inflation have resulted in footcare becoming less affordable among vulnerable groups, like those with intellectual disabilities and chronic illness, older people, those living in rural and inner-city communities, and the ethnically and linguistically diverse population living in the UK. …”
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10559“…AS is characterized by a developmental delay, lack of speech, motor dysfunction, epilepsy, autistic features, happy demeanor, and intellectual disability. While the cellular roles of UBE3A are not fully understood, studies suggest that the lack of UBE3A function is associated with elevated levels of reactive oxygen species (ROS). …”
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10560por NASCIMENTO, MARIA, TORRES, RHIAN, HOROCHOVSKI, AMANDA, BIRMANN, BRUNO, TAKAHARA, BRUNO, SOUZA, LUIS, RIBEIRO, KLYNSMAN, MCBENEDICT, BILLY“…The highest prevalence was the physical disability (39.11%), followed by low vision accuracy (24.45%), intellectual (15.41%), low hearing (14.11%), blindness (3.97%), multiple disabilities (2.47%) and deafness (1.51%). …”
Publicado 2023
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