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  1. 11781
    “…If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor deficits, eczematous rash, autism, seizures, and developmental problems. …”
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    Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
  2. 11782
    “…Diagnostic, procedure, and diagnosis-related group codes identified NDDs (intellectual disabilities, cerebral palsy, autism spectrum disorders), incident cases of advanced CKD (CKD stages 4+), diabetes, cardiovascular diseases, and hypertension present in the year 2013. …”
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    Incidence Rate of Advanced Chronic Kidney Disease Among Privately Insured Adults with Neurodevelopmental Disabilities
  3. 11783
    por Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
    Publicado 2019
    “…PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. …”
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    De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
  4. 11784
    “…Of note, the two patients presenting with the worst outcome (that is, poor seizure control and intellectual/behavioral disability) both carried pathogenic variants in the GAP domain of TSC2. …”
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    Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background
  5. 11785
    “…The questions encompass setting appropriate research questions; community engagement and consultation; research leadership and governance; community protocols; intellectual and cultural property rights; the collection and management of research material; Indigenous research paradigms; a strength-based approach to research; the translation of findings into policy and practice; benefits to participants and communities involved; and capacity strengthening and two-way learning. …”
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    Assessing the quality of health research from an Indigenous perspective: the Aboriginal and Torres Strait Islander quality appraisal tool
  6. 11786
    “…BACKGROUND: Fragile X syndrome (FXS) is the most frequent cause of inherited intellectual disability and the most commonly identified monogenic cause of autism. …”
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    Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
  7. 11787
    “…To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. …”
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    Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
  8. 11788
    “…This demonstrates the importance of statutory planning as well as informal support to families to avoid added problems in child development and family bonding over and above that brought by the intellectual disabilities associated with Down syndrome.…”
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    Birth incidence, deaths and hospitalisations of children and young people with Down syndrome, 1990–2015: birth cohort study
  9. 11789
    “…In two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy we identified rare homozygous variants in the genes LTBP1, EMILIN1, CACNB4, MINAR1, DHX38 and MYO15 by whole-exome sequencing. …”
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    A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
  10. 11790
    “…Guideline development and implementation strengthening priority actions included: i) developing a national end-user document; ii) aligning recommendations with local practice; iii) communicating a clear and consistent message; iv) addressing controversial recommendations; v) managing the impact of interests, beliefs and intellectual conflicts; and vi) transparently reporting implementation decisions. …”
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    Strengthening prehospital clinical practice guideline implementation in South Africa: a qualitative case study
  11. 11791
    “…BACKGROUND: Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. …”
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    Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
  12. 11792
    “…CNVs (microdeletions and microduplications) spanning RBFOX-2 were identified in twenty-seven humans with a wide range of birth defects(intellectual disability, CNS, cardiac, genitourinary, facial, hearing, vision, growth and stature anomalies) and the phenotype of the haploinsufficient Rbfox-2(α/+)mouse model closely correlated with the human phenotype, although Rbfox-2(α/+ and)Rbfox-2(α/α) are neonatal lethal. …”
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    OR02-01 Gene Dosage Changes in RBFOX-2 Can Affect Upper and Lower Tract Genitourinary Development
  13. 11793
    “…Congenital hypothyroidism (CH) is one of the leading causes of intellectual impairment worldwide in infancy. The newborn screening has been able to prevent this mental disability, by a prompt initiation of therapy. …”
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    MON-101 Costa Rican National Primary Congenital Hypothyroidism Screening Program Evaluation. Retrospective Cohort Trial Between 2015 and 2017
  14. 11794
    “…BACKGROUND: Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure, seizures, behavioral changes and premature death. …”
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    A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
  15. 11795
    “…For the academics, the drivers to engage included the intellectual value of the collaboration, the readiness of the operational partners to conduct an empirical investigation and the possibility that such work might lead to a better understanding in public health terms of how the response met population needs. …”
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    Conducting operational research in humanitarian settings: is there a shared path for humanitarians, national public health authorities and academics?
  16. 11796
    “…BACKGROUND: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as an increased pediatric cancer risk. …”
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    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
  17. 11797
    “…Pre-program, students had the greatest positive perception of RO with respect to Income Potential (mean: 3.76/5.00 ± 0.87), Intellectual Challenge (mean: 3.90/5.00 ± 0.94), and Research Opportunities (mean: 3.86/5.00 ± 0.83) while most negatively assessing the factors of Flexibility (mean: 2.69/5.00 ± 0.93) and Level of Stress (mean: 2.93/5.00 ± 0.94). …”
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    The Impact of a Rotating Elective on Medical Students' Perception of Radiation Oncology
  18. 11798
    “…BACKGROUND: Severe iodine deficiency during pregnancy can cause intellectual disability, presumably through inadequate placental transfer of maternal thyroid hormone to the fetus. …”
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    Maternal Iodine Status During Pregnancy Is Not Consistently Associated with Attention-Deficit Hyperactivity Disorder or Autistic Traits in Children
  19. 11799
    “…The scientific production is geographically polarised within the EU and Anglo-Saxon countries, with the United Kingdom playing a central role. The intellectual structure consists of three main areas: public administration and management, service management and knowledge translation literature. …”
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    Co-production in health policy and management: a comprehensive bibliometric review
  20. 11800
    “…SYNGAP1 mutations have been found in human patients with intellectual disability (ID) and autism spectrum disorder (ASD). …”
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    Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
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