Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 183 for “"neurodevelopmental disorders"”.
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Clinical epigenetics of Mendelian neurodevelopmental disorders
Contains fulltext : 311851.pdf (Publisher’s version ) (Open Access)
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I …
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RABPHILIN3A: FROM NMDA RECEPTOR MEMBRANE DYNAMICS TO NEURODEVELOPMENTAL DISORDERS
… variants in RPH3A gene. Four cases had a neurodevelopmental disorder (NDD) with untreatable epileptic seizures [p.(Gln73His)dn; p.(Thr450Ser)dn; p.(Arg209Lys); p.(Gln508His)], and two cases [p.(Asn618Ser)dn; p.(Arg235Ser)] showed high functioning autism spectrum disorder (ASD). Using …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
Neurodevelopmental disorders (NDs) are a growing public health concern. These complex disorders cause failure of normal brain development, which leads to intellectual disability (ID) or autism in 3% of children. Accurate diagnosis of NDs is difficult due to complex overlapping phenotypes. Moreover, …
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Network-based approaches towards understanding the emergence of neurodevelopmental disorders
Many psychiatric disorders are rooted in neurodevelopmental processes. However, achieving a mechanistic understanding of the developmental sensitivity of mental illness---and how disruptions to early life processes shape psychiatric symptomatology---remains a central challenge in psychiatry. This …
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A Comparative Study of Working Memory in Children with Neurodevelopmental Disorders
… components of working memory in children with neurodevelopmental disorders, and in particular in those with autism. This research was initiated to answer some of the questions raised by these research studies and to provide a comparison of performance of children with different …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
… genetic causes of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing studies on …
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Harnessing transcriptomic data to better understand gene regulatory mechanisms of neurodevelopmental disorders
… have identified over 3,000 genes implicated in neurodevelopmental disorders (NDDs), yet the mechanisms by which their dysregulation impacts brain development remain unclear. Brain development depends on precisely timed, tightly regulated gene expression. This thesis investigates the …
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Next-generation phenotyping in neurodevelopmental disorders: Applications of artificial intelligence in clinical genetics
Contains fulltext : 306760.pdf (Publisher’s version ) (Open Access)
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EZH1 variants disrupt neurogenesis in hPSC-derived neuronal models and cause neurodevelopmental disorders
… neurogenesis is one of the underlying causes of neurodevelopmental and intellectual disability disorders. We recently found EZH1 loss and gain of function (LOF and GOF) variants as the genetic basis of overlapping novel neurodevelopmental disorders. Enhancer of Zeste Homologue 1 (EZH1), is one of …
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions that effect brain function with onset in the developmental period. While individually rare, collectively NDDs are present in 7.0-13.6% of the population. Genetics (including copy number variants, CNVs) plays a central role …
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Applying animal modelling to understand rare novel neurodevelopmental disorders associated with intellectual disability
… ID is part of a heterogeneous group of neurodevelopmental conditions associated with impairment in developmental domains and a cause of particularly adverse socioeconomic impact worldwide. There have been many recent advances in identifying causative genetic mutations in previously …
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Educating Children with Neurodevelopmental Disorders in a Nigerian Context. Perspectives and Lived Experiences
… and their parents, especially those with neurodevelopmental disorders (ND). These findings then facilitated an assessment of the alignment of the statutes and policies with the values and expectations of stakeholders, which was enacted for the second part of the study. In the second part …
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BRAIN STRUCTURE AND FUNCTION ASSOCIATED WITH EMOTION DYSREGULATION IN TYPICAL DEVELOPMENT AND NEURODEVELOPMENTAL DISORDERS
… differences in the neurobiology of ED and the neurodevelopmental disorder contribution to ED.
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Stigmatization of Psychological and Neurodevelopmental Disorders: Effects of Diagnostic Labeling in a Legal Context
<p>Over 50% of inmates have mental health problems (James & Glaze, 2006) and specific diagnostic labels have been shown to adversely affect sentencing outcomes (e.g., Edens, Desforges, Fernandez, & Palac, 2004). We applied social categorization, attribution theory, and psychological essentialism to …
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Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders
ABSTRACT: Diagnosis for neurodevelopmental disorders poses numerous challenges, related to the lack of specific findings and limited understanding of clinical impact of the majority of genetic variation. Epigenomics mechanisms involve chemical modifications in DNA that involve a range of cellular …
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A Cerebellar Role in the Development and Regulation of Autism-Relevant Behavior in Neurodevelopmental Disorders
Pages ix-x are misnumbered as pages x-xi.
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Cognitive task performances as biomarkers & candidate endophenotypes in childhood neurodevelopmental disorders: ADHD & autism
… test available for the diagnosis of the two disorders yet. The current diagnostic criteria adopt hierarchical approach and preclude the diagnoses of ADHD and ASD in an individual. The thesis investigated whether ASD and ADHD could be discriminated based on their neuropsychological profiles. …
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