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 9 of 9 for “"Dysmorphology"”.
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Dysmorphology Training and Utility in Genetic Counseling
… availability of comprehensive genetic testing, dysmorphology was critical for developing a differential for individuals suspected of having a genetic disorder. Literature suggests that the availability of whole exome and whole genome sequencing (ES/GS) has shifted the use of dysmorphology from a …
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Dysmorphology Training and Utility in Genetic Counseling
… availability of comprehensive genetic testing, dysmorphology was critical for developing a differential for individuals suspected of having a genetic disorder. Literature suggests that the availability of whole exome and whole genome sequencing (ES/GS) has shifted the use of dysmorphology from a …
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An investigation into the use of stereophotogrammetry for the analysis of craniofacial dysmorphology in schizophrenia
Studies of craniofacial dysmorphology in schizophrenia, carried out since the 1960s, have reported minor physical anomalies in those with schizophrenia, prominently in the craniofacial region. Indirect methods, most notably 3D laser imaging, have been used previously for investigating craniofacial …
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Peri-extubation practices and extubation failure in a South African tertiary paediatric intensive care unit
… (adjusted OR 1.8 (95% CI 0.05 – 0.6); p =0.004), dysmorphology (OR 1.8 (95% CI 0.05 – 0.6); p=0.022), decreased level of consciousness (OR 4.8 (95% CI 1.96 – 11.7); p=0.001) and ventilation ≥48 hours (OR 0.2 (95% CI 0.05 – 0.7); p = 0.003) were independently associated with extubation failure on …
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A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
… In this project, I have studied craniofacial dysmorphology related to Bardet-Biedl syndrome (BBS) in humans, mice, and zebrafish, and shown there to be consistent midfacial flattening and hypoplasia. Bbs8, a causative gene of BBS, has a key role in neural crest migration and possibly in cell …
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Developmental Differences and Altered Gene Expression in the Ts65Dn Mouse Model of Down Syndrome
… with Down syndrome (DS). Craniofacial dysmorphology occurs in essentially all individuals with trisomy 21 and causes functional difficulties. Mouse models are commonly used to study the etiology of human disorders because of the conserved phenotypes between species. The Ts65Dn Down …
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Relation between reported maternal caffeine consumption during pregnancy and neonatal state and heart rate
… between feedings. Measures of fetal growth and dysmorphology were also collected for each infant. Mothers were then interviewed about their caffeine consumption during pregnancy. When maternal nicotine and alcohol use during pregnancy were statistically controlled, results showed that infants …
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Human subtelomeric aberrations in the Hong Kong population
Intellectual disability (ID) is a common clinical problem, affecting approximately 2% of the population. The causes of ID can be either genetic, environmental, or a combination of both. Chromosomal abnormalities are a major cause of ID. They are more commonly seen in patients with moderate-severe …
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Utilizing facial scanning to screen for fetal alcohol spectrum disorder in South Africa
Fetal Alcohol Spectrum Disorder (FASD) remains a significant yet underdiagnosed public health concern in South Africa, with disproportionately high prevalence among historically marginalised populations. Oral Health Professionals (OHPs), through their clinical focus on the craniofacial region and …