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Mostrando 3,181 - 3,200 Resultados de 12,673 Para Buscar '"Intellectual"', tiempo de consulta: 0.21s Limitar resultados
  1. 3181
    por Delgado, Sara, Velinov, Milen
    Publicado 2015
    “…All deletion carriers have various degrees of intellectual disability while two of them have SHFM. …”
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    7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance
  2. 3182
    “…CASE PRESENTATION: Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. …”
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    A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
  3. 3183
    “…It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of autism spectrum disorder (ASD). …”
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    Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma
  4. 3184
    “…(WCW) training is designed to emphasise the role of staff in residential settings as a challenge also to people with intellectual disability. The course is delivered jointly by a trainer with intellectual disability who has been labelled as having challenging behaviour, along with a trainer without intellectual disability. …”
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    Effectiveness of the ‘Who’s Challenging Who’ support staff training intervention to improve attitudes and empathy towards adults with intellectual disability and challenging behaviours: study protocol for a cluster randomised controlled trial
  5. 3185
    “…The aim of this study was to quantitate the relative impact of nutritional, intellectual, brain development, cardiovascular risk, socio-economic, demographic and educational variables on the results of the 2009 Quality Education Measurement System (SIMCE) tests of language and mathematics for scholastic achievement (SA) applying a multifactorial approach, in school-age children of the 2010 5(th) elementary school grade (5ESG) and of the 1(st) grade of high school (1HSG). …”
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    A multifactorial approach of nutritional, intellectual, brain development, cardiovascular risk, socio-economic, demographic and educational variables affecting the scholastic achievement in Chilean students: An eight- year follow-up study
  6. 3186
    “…These ratios are also greater than previously reported for people with either intellectual disabilities or autism rather than co-occurring intellectual disabilities and autism. …”
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    Prevalence of mental health conditions, sensory impairments and physical disability in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland
  7. 3187
    “…Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a ~240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 kb microduplication at Xp22.33 region, both transmitted from her mother. …”
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    7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
  8. 3188
    “…BACKGROUND: MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. …”
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    Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability
  9. 3189
    “…BACKGROUND: Sexual problems of intellectually disabled adolescents are associated with their inability to understand sexuality. …”
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    Comparing the effect of two educational interventions on mothers’ awareness, attitude, and self-efficacy regarding sexual health care of educable intellectually disabled adolescent girls: a cluster randomized control trial
  10. 3190
    por Han, Ji Yoon, Park, Joonhong
    Publicado 2021
    “…In this report, using depth-of-coverage analysis from exome sequencing data, we described variable phenotypes of epilepsy, intellectual disability (ID), and schizophrenia caused by 12p13.33–p13.32 terminal microdeletion in a Korean family. …”
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    Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review
  11. 3191
    “…People with Intellectual and Developmental Disabilities (IDDs) are disproportionately vulnerable to poorer oral health due to their complex needs specifically sensory processing difficulties. …”
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    The Effectiveness of Sensory Adaptive Dental Environments to Reduce Corresponding Negative Behaviours and Psychophysiology Responses in Children and Young People with Intellectual and Developmental Disabilities: A Protocol of a Systematic Review and Meta-Analysis
  12. 3192
    “…BACKGROUND: People with serious mental illness (SMI) and intellectual disabilities and/or developmental disabilities (ID/DD) living in group homes (GHs) and residential staff are at higher risk for COVID-19 infection, hospitalization, and death compared with the general population. …”
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    Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid type 1 effectiveness-implementation cluster randomized trial
  13. 3193
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    Lecture notes in computational intelligence and decision making: proceedings of the XV international scientific conference intellectual systems of decision making and problems of computational intelligence (ISDMCI'2019), Ukraine, May 21-25 2019
  14. 3194
    “…INTRODUCTION: Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. …”
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    Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
  15. 3195
    “…INTRODUCTION: Mothers of children with intellectual disability (ID) are often distressed because of intensive workloads and difficulties in communicating with their children. …”
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    Protocol for a mixed-methods randomised controlled trial evaluating the effectiveness of a dyadic expressive arts-based intervention in improving the psychosocial well-being of children with intellectual disability in special schools and their mothers
  16. 3196
    “…The proband showed optic neuropathy, epilepsy, migraine, and intellectual disability; all the maternal relatives did not manifest optic neuropathy but a moderate to severe intellectual disability. …”
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    Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report
  17. 3197
    “…BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). …”
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    Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea
  18. 3198
    “…Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. …”
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    Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability
  19. 3199
    “…These results confirm RUNX1T1 as a causative gene for intellectual disability and suggest the 1p22.1p21.3 duplication is likely benign.…”
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    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
  20. 3200
    “…We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, growth retardation and dysmorphic features. …”
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    Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation
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