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10401por Straka, Barbora, Hermanovska, Barbora, Krskova, Lenka, Zamecnik, Josef, Vlckova, Marketa, Balascakova, Miroslava, Tesner, Pavel, Jezdik, Petr, Tichy, Michal, Kyncl, Martin, Musilova, Alena, Lassuthova, Petra, Marusic, Petr, Krsek, Pavel“…Diagnosis of focal cortical dysplasia type 2A, epilepsy, and intellectual disability were associated with positive results of germline testing. …”
Publicado 2022
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10402“…Variants of IL1RAPL1 are known to cause nonsyndromic X-linked intellectual disability with or without human behavioural dysfunction. …”
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10403por Yang, Kunfang, Lin, Longlong, Yuan, Fang, Li, Xiaoguang, Liu, Zhiping, Lan, Xiaoping, Wang, Yilin, Ren, Yun, Li, Jiaoyan, Chen, Yucai“…RESULTS: Two Han Chinese patients both presented with intellectual disability (ID), microcephaly with pontine and cerebellar hypoplasia (MICPCH). …”
Publicado 2022
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10404por Yu, Jingjia, Li, Chen, Chen, Jialin, Ran, Qiuchi, Zhao, Yingya, Cao, Qingxin, Chen, Ximeng, Yu, Linnan, Li, Wenyang, Zhao, Zhenjin“…The patient did not experience hearing loss and only mild intellectual disability. Radiological examinations showed cleft secondary palate, narrow upper arch, narrow upper airway, and mandibular skeletal retrusion. …”
Publicado 2022
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10405por Gan, Mailin, Ma, Jianfeng, Chen, Lei, Zhang, Shunhua, Niu, Lili, Zhao, Ye, Li, Xuewei, Pan, Hongmei, Zhu, Li, Shen, Linyuan“…Intrauterine growth restriction (IUGR) in humans often manifests as poor growth and delayed intellectual development, whereas in domestic animals it results in increased mortality. …”
Publicado 2022
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10406por Sirp, Alex, Shubina, Anastassia, Tuvikene, Jürgen, Tamberg, Laura, Kiir, Carl Sander, Kranich, Laura, Timmusk, Tõnis“…Aberrations in the TCF4 gene are associated with several neurocognitive disorders such as schizophrenia, intellectual disability, post-traumatic stress disorder, depression, and Pitt-Hopkins Syndrome, a rare but severe autism spectrum disorder. …”
Publicado 2022
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10407por Buttermore, Elizabeth D., Anderson, Nickesha C., Chen, Pin-Fang, Makhortova, Nina R., Kim, Kristina H., Wafa, Syed M. A., Dwyer, Sean, Micozzi, John M., Winden, Kellen D., Zhang, Bo, Han, Min-Joon, Kleiman, Robin J., Brownstein, Catherine A., Sahin, Mustafa, Gonzalez-Heydrich, Joseph“…16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of 16p13.11 deletions or duplications occur within three well-defined intervals, and despite growing knowledge of the functions of individual genes within these intervals, the molecular mechanisms that underlie commonly observed clinical phenotypes remain largely unknown. …”
Publicado 2022
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10408“…Child diagnoses included Down syndrome, autism spectrum disorder, and intellectual disability. Feasibility was assessed in five domains (i.e., acceptability, demand, implementation, practicability, and limited efficacy) using a combination of self-report measures, qualitative feedback, and data on attrition. …”
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10409por Roussel, J., Larcher, R., Sicard, P., Bideaux, P., Richard, S., Marmigère, F., Thireau, J.“…Interestingly, peripheral mechanosensitive sensory neurons also project to internal organs including the cardiovascular system, and an imbalance of the cardio-vascular sympathovagal regulation is evidenced in ASD and intellectual disability. ASD patients have decreased vagal tone, suggesting dysfunction of sensory neurons involved in cardio-vascular sensing. …”
Publicado 2022
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10410por Rinné, Susanne, Stallmeyer, Birgit, Pinggera, Alexandra, Netter, Michael F., Matschke, Lina A., Dittmann, Sven, Kirchhefer, Uwe, Neudorf, Ulrich, Opp, Joachim, Striessnig, Jörg, Decher, Niels, Schulze-Bahr, Eric“…In addition, germline mutations in CACNA1D have been linked to neurodevelopmental syndromes including epileptic seizures, autism, intellectual disability and primary hyperaldosteronism. …”
Publicado 2022
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10411por Mesfin, Telila, Tekalegn, Yohannes, Aman, Mudesir, Geta, Girma, Ketema, Adugna, Defere, Fekata, Girma, Dejene, Tsegaye, Mesfin, Mengistu, Takele, Seyoum, Kenbon“…In adults, foreign body ingestion is more common in the elderly, individuals with mental illness or who have an intellectual disability, alcohol poisoning, prison inmates, and drug traffickers. …”
Publicado 2022
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10412“…He had not defecated for 5 days before visiting our hospital. He had moderate intellectual disability. Immediately after admission, he developed hand tremors and drooling. …”
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10413“…Patient safety research in anesthesia, while profiting from a certain intellectual and conceptual head start, showed a discursive shift toward more managerial, quality-management related topics as observed in the health care system as a whole. …”
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10414“…Williams syndrome is a neurodevelopmental genetic disorder characterized by a unique phenotype, including mild to moderate intellectual disability and an uneven neuropsychological profile of relative strengths and weaknesses. …”
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10415por Wu, Hui, Suo, Guihai, Li, Tianci, Zheng, Yuqin, Li, Haiying, Shen, Feifei, Wang, Yongjun, Ni, Haidong, Wu, Youjia“…Identifying CaMKIV/EGR3/BDNF pathway in the hippocampal neurons in the context of CH will benefit the drug development of intellectual disability caused by CH.…”
Publicado 2022
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10416por Engidaye, Getabalew, Aynalem, Melak, Adane, Tiruneh, Gelaw, Yemataw, Yalew, Aregawi, Enawgaw, Bamlaku“…BACKGROUND: Undernutrition can lead to impaired physical growth, restricted intellectual skills, low school performance, reduced working capacity, and rooted disability in adult life. …”
Publicado 2022
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10417por Talvio, Karo, Minkeviciene, Rimante, Townsley, Kayla G., Achuta, Venkat Swaroop, Huckins, Laura M., Corcoran, Padraic, Brennand, Kristen J., Castrén, Maija L.“…Lack of FMR1 protein results in fragile X syndrome (FXS), which is the most common inherited intellectual disability syndrome and serves as an excellent model disease to study molecular mechanisms resulting in neuropsychiatric comorbidities. …”
Publicado 2022
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10418“…Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained. CONCLUSION: This case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. …”
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10419por Pattison, Philippa, Bridgeman, Adam, Bulmer, Ainslie, McCallum, Peter, Miles, Richard“…Intended to prepare students for a changing world, the new curriculum sought a balance between graduates’ expertise in a primary field of study and a set of broader capabilities that would support their capacity for future learning and for creative and effective engagement in life and career, including an understanding of broader intellectual landscapes; the skills for collaboration, invention, and influence; and the integration of knowledge with professional and personal ethics and values. …”
Publicado 2022
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10420por Kop, Mauritz“…The chapter critically examines the normative justifications of our scarcity based legal institutions, such as property and intellectual property (IP) systems, in light of 10 exponential, Fourth Industrial Revolution (4IR) technologies, and the post-scarcity economy. …”
Publicado 2022
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