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.
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Showing 1 to 8 of 8 for “"nonsyndromic"”.
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Gene Discovery In Nonsyndromic Cleft Lip With Or Without Cleft Palate
<p><strong> </strong></p> <p> <p>Nonsyndromic cleft lip with or without cleft palate (NSCLP), a common, complex orofacial birth defect that affects approximately 4,000 newborns each year in the United States, is caused by both genetic and environmental factors. Orofacial clefts affect the mouth and …
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Fzd6, Matn2 and Slc25A32, Possible Candidate Genes In Nonsyndromic Cleft Lip and Palate
<p>Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect with a multifactorial etiology. Despite decades of research, the genetic underpinnings of NSCLP still remain largely unexplained. A genome wide association study (GWAS) of a large NSCLP African American family …
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Genetic Pathway Analysis of Abnormal Facial Development In Nonsyndromic Cleft Lip and Palate
<p>Nonsyndromic cleft lip with or without cleft palate (NSCLP) is the most common craniofacial birth defect resulting from incomplete fusion of the facial prominences during development, which leaves a gap in the lip, primary palate and/or the secondary palate. NSCLP affects 135,000 NSCLP newborns …
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Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
Background Hearing impairment (HI) is the most common sensory disability and occurs in about 1 per 1000 live births in high-income countries, with a much higher incidence of up to 6 per 1000 live births in sub-Saharan Africa (SSA). HI can be due to environmental or genetic causes, and in many …
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Neuropsychological profiles of children and adolescents with craniosynostosis
… respiratory and hearing impairments), and the nonsyndromic craniosynostoses, in which craniosynostosis presents in isolation. Reconstructive surgery to remodel the cranium is required in most cases, normally between 6 to 12 months of age. The risks of adverse central nervous system and …
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Relationship Between a Measure of Social and Emotional Development and Early Communication Development in Young Children with Cleft Palate
… Twenty-eight participants aged 14-35 months with nonsyndromic cleft palate and or lip were included in this study. The Infant-Toddler Social and Emotional Assessment (ITSEA) was used to identify emerging social and emotional behaviors. Descriptive analysis of ITSEA results was completed. Pearson …
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Parents' perspectives and experiences of having a child with hereditary hearing loss
… the cases of prelingual HL and of these 70% are nonsyndromic. There is ongoing research into the genetic basis of HL in the South African setting as at present, genetic testing for HL is largely uninformative in most African populations. Previous studies have examined the psychosocial challenges …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… with non-syndromic isolated CHD (n = 76), nonsyndromic CHD with additional extra-cardiac anomalies (n = 17), and positive controls with syndromic CHD (n = 12). Genotyping was performed using the Affymetrix CytoScan HD platform. Rare CNVs were filtered using stringent criteria for their size …