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  1. 12001
    por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
    Publicado 2018
    “…We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.…”
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    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  2. 12002
    “…Efficacy was assessed based on patient diaries regarding the absolute and relative changes in seizure frequency, change in intellectual impairment and quality of life. RESULTS: Overall, 47 (65.3%) patients experienced 152 treatment-emergent adverse events (TEAEs). …”
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    Safety, Tolerability and Efficacy of Eslicarbazepine Acetate as Adjunctive Therapy in Patients Aged ≥ 65 Years with Focal Seizures
  3. 12003
    “…CASE PRESENTATION: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. …”
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    Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
  4. 12004
    “…Mutations in the GPI processing pathway are associated with intellectual disability, emphasizing the potential role of GPI-APs in cognition and schizophrenia-associated cognitive dysfunction. …”
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    Abnormal ER quality control of neural GPI-anchored proteins via dysfunction in ER export processing in the frontal cortex of elderly subjects with schizophrenia
  5. 12005
    “…Review of the 23 published and five unpublished clinical cases and genomic mutations, including the effect of novel deep intronic pathogenic mutations on RTTN transcripts, allowed us to extrapolate the core phenotype, consisting of intellectual disability, short stature, microcephaly, lissencephaly, periventricular heterotopia, polymicrogyria and other malformations. …”
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    Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
  6. 12006
    “…EXPOSURES: Dementia status, age, sex, APOE genotype, level of intellectual disability, health variables, and living situation. …”
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    Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years
  7. 12007
    “…The intrafamilial variability is demonstrable however; it is likely that HHS was missed in our patient’s initial presentation in childhood, as seizures and intellectual disability in adulthood are exceptionally rare complications of this condition. …”
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    SUN-LB034 A Rare Cause of Hyperinsulinemic Hypoglycemia in Adulthood: A Case Report and Review of the Literature
  8. 12008
    por Chen, Jarreau
    Publicado 2019
    “…Family history was negative of seizures, thyroid or calcium disorders. He does not have intellectual disability. Physical exam did not reveal any features of Albright hereditary osteodystrophy. …”
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    SUN-510 Pseudohypoparathyroidism Type 1b Presenting With Fahr Syndrome In An Adolescent.
  9. 12009
    “…BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. …”
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    A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
  10. 12010
    “…EXPOSURES: The association between ADHD and mortality was analyzed using a Cox regression model that controlled for sex, age, residence, insurance premium, outpatient visits, congenital anomaly, intellectual disability, depression disorder, autism, substance use disorder, conduct disorder, and oppositional defiant disorder. …”
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    Attention-Deficit/Hyperactivity Disorder and Mortality Risk in Taiwan
  11. 12011
    “…IMPORTANCE: Given the critical role that iron plays in neurodevelopment, an association between prenatal iron deficiency and later risk of neurodevelopmental disorders, such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability (ID), is plausible. OBJECTIVE: To test the a priori hypothesis that anemia diagnosed in mothers during pregnancy is associated with an increased risk of ASD, ADHD, and ID in offspring and that the magnitude of the risk varies with regard to the timing of anemia in pregnancy. …”
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    Association of Prenatal Maternal Anemia With Neurodevelopmental Disorders
  12. 12012
    “…Interestingly lower body mass index was observed in patients with good dietary adherence (20.40 ± 4.43 vs 24.30 ± 6.10; P = .08) and those with good pharmacological adherence (21.19 ± 4.68 vs 28.58 ± 213.79). intellectual quotient was ≥85 in all NBS- and 68.75% of late diagnosis cases evaluated, 15% of which need pedagogical support, and 6.8% (3/44) showed school failure. …”
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    Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
  13. 12013
    “…BACKGROUND: Down syndrome (DS), caused by the triplication of chromosome 21, results in a constellation of clinical features including changes in intellectual and motor function. Although altered neural development and function have been well described in people with DS, few studies have investigated the etiology underlying the observed motor phenotypes. …”
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    Spatiotemporal development of spinal neuronal and glial populations in the Ts65Dn mouse model of Down syndrome
  14. 12014
    “…We identified post-hoc nine macro-categories: static encephalopathies, metabolic/evolutive encephalopathies, epileptic encephalopathies, neuromuscular diseases, autistic spectrum disorders, migraine, psychiatric disorders, intellectual disabilities, others. A logistic regression model for events with low frequency (Firth’s penalized likelihood approach) was carried out to identify the mutually adjusted effect among endpoints (complications) and the independent variables chosen on the basis of statistical significance (univariate analysis, p ≤ 0.05) and clinical judgment. …”
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    Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders
  15. 12015
    “…BACKGROUND: Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with frequent occurrence of epilepsy, autism spectrum disorder (ASD), intellectual disability (ID), and tumors in multiple organs. …”
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    TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling
  16. 12016
    “…BACKGROUND: Congenital hypothyroidism is a common, yet easily treatable cause of poor growth and intellectual disability. Newborn screening programs play an important role in the early detection and treatment of congenital hypothyroidism. …”
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    Correlating maternal iodine status with neonatal thyroid function in two hospital populations in Ghana: a multicenter cross-sectional pilot study
  17. 12017
    “…The curriculum places emphasis on small group narrative discussion and collaboration with peers and faculty mentors about ethical considerations in everyday clinical decision-making and provides an intellectual space to self-reflect, explore moral and professional values, and mature one’s own professional communication skills. …”
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    A Novel Peer-Directed Curriculum to Enhance Medical Ethics Training for Medical Students: A Single-Institution Experience
  18. 12018
    “…Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. …”
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    Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome
  19. 12019
    por Li, Chao, Chen, Jing-Yi, Huang, Yang-Mu
    Publicado 2020
    “…METHODS: Data were obtained from the National Nature Science Foundation of China database, PubMed database, Patent Search System of the State Intellectual Property Office of China, National Medical Products Administration, national policy reports and literature between Jan 1st, 2006 and Dec 31st, 2017. …”
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    Challenges and opportunities for China entering global research and development for emerging infectious diseases: a case study from Ebola experience
  20. 12020
    “…CASE PRESENTATION: Here, we report a 4-year-old Chinese boy who presented with MAE, delayed language, borderline intellectual disability (ID), mildly impaired social skills and attention deficit hyperactivity disorder (ADHD). …”
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    Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia
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