Materias dentro de su búsqueda.
Mostrando 10,181 - 10,200 Resultados de 12,673 Para Buscar '"intellectual"', tiempo de consulta: 0.56s Limitar resultados
  1. 10181
    “…Mutations in regulators of mTORC1, such as Tsc1 and Tsc2, lead to neurodevelopmental disorders associated with autism, intellectual disabilities and epilepsy. The correct development of inhibitory interneurons is crucial for functional circuits. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss
  2. 10182
    “…SMS is associated with neurodevelopmental deficits, intellectual disability, and a cohort of characteristic phenotypic features, including voice quality, which does not seem to be in line with the gender, age, and complexion of the diagnosed subject. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome
  3. 10183
    “…BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
  4. 10184
    “…We also report PARP6 mutations in six patients with several neurodevelopmental disorders, including microencephaly, intellectual disabilities, and epilepsy. The most severe mutation in PARP6 (C563R) results in the loss of catalytic activity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay
  5. 10185
    “…SGS features multi-organ involvement with severe intellectual and physical deficits due, at least in part, to early neurodegeneration. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
  6. 10186
    “…BACKGROUND: In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc), and to a multisystemic disorder with intellectual disability. The aim of this study was to determine whether sialic acid supplementation might be a therapeutic avenue for NANS-deficient patients. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
  7. 10187
    “…Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy. Oculo‐motor dysfunction and immuno‐hematological problems were present in six and three cases, respectively. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
  8. 10188
    “…Existing treatment protocols are aggressive in nature resulting in significant neurological, intellectual and physical disabilities for the children undergoing treatment. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    MOMC-5. Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastoma
  9. 10189
    “…PURPOSE: Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample
  10. 10190
    “…Here, we present a case with obvious growth retardation and intellectual disability, accompanied by other manifestations including dysmorphic features of the ears, facial dysmorphism, right cryptorchidism, and inguinal hernia. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome—a case report
  11. 10191
    “…Resistance, cognitive confidence (domain of metacognitions questionnaire-30), intellectual processes and inhibitory control (go-no-go task) accounted for 38% of the variance in personal distress. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Metacognitive Beliefs, Cognitive Functioning, Psychiatric Symptoms and Empathy in People with Schizophrenia
  12. 10192
    “…Scientists, clinicians, pharmaceutical companies, and health organizations have dedicated substantial Intellectual and monetary resources to finding a cure, increasing immunization rates, and reducing the global burden of CHB. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Advances in treatment and prevention of hepatitis B
  13. 10193
    “…Safe-by-Design provides for an intellectual venue where social science and the humanities (SSH) collaborate on technological developments and innovation by helping to proactively incorporate safety considerations into engineering practices, while navigating between the extremes of technological optimism and disproportionate precaution. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Safe-by-Design in Engineering: An Overview and Comparative Analysis of Engineering Disciplines
  14. 10194
    “…We examined 25 male ASD patients without intellectual disability in a double-blind, cross-over, placebo-controlled fMRI-protocol, in which a single dose of oxytocin or placebo was applied intranasally. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Randomized clinical trial shows no substantial modulation of empathy-related neural activation by intranasal oxytocin in autism
  15. 10195
    por Dionne, Olivier, Corbin, François
    Publicado 2021
    “…Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disabilities and autism spectrum disorders. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs)
  16. 10196
    “…CASE SUMMARY: We report a case of a 13-year-old Chinese boy with lifelong global developmental delay, speech and language delay, and intellectual disabilities. He had short stature and irregular dentition, but no other abnormal clinical findings. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review
  17. 10197
    “…Increased rates were also observed for most of the specific psychiatric disorders, in particular, mood disorders (HR, 1.53; 95% CI, 1.39–1.67), neurotic, stress-related and somatoform disorders (HR, 1.44; 95% CI, 1.37–1.52) and specific personality disorders (HR, 1.47; 95% CI, 1.27–1.70), but not for intellectual disability (HR, 0.84; 95% CI, 0.71–1.00) or eating disorders (HR, 1.10; 95% CI, 0.93–1.29). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Maternal migraine and the risk of psychiatric disorders in offspring: a population-based cohort study
  18. 10198
    “…Majority (n = 8) were developmentally delayed with some degree of intellectual disability (ID). Observable symptoms were rated on a three point scale during virtual visits. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Maintenance Electroconvulsive Therapy Is an Essential Medical Treatment for Patients With Catatonia: A COVID-19 Related Experience
  19. 10199
    “…Fetal alcohol exposure can lead to developmental abnormalities, intellectual disability, and behavioral changes, collectively termed fetal alcohol spectrum disorder (FASD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Developmental Alcohol Exposure in Drosophila: Effects on Adult Phenotypes and Gene Expression in the Brain
  20. 10200
    “…The youngest age at the start of school owing to MOB was associated with the highest RRs of intellectual disability (1.13), autism (1.05), attention‐deficit/hyperactivity disorder (1.13). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Month of birth and mental disorders: A population‐based study and validation using global meta‐analysis
Herramientas de búsqueda: RSS