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 663 for “"congenital"”.
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Congenital Hypertrophic Pyloric Stenosis
<p><strong>[Abstract Not Included]</strong></p> <p><strong>[Signature page Not Included]</strong></p>
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dB2 neuron dysfunction causes congenital hypoventilation
Congenital hypoventilation encompasses a series of life-threatening respiratory disorders that are classically diagnosed in newborns. These conditions are characterized typically by hypoventilation, apnea, and insensitivity to elevated levels of arterial PCO2. Mutations in the transcription factors …
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Genomic Approaches to Congenital Genitourinary Disorders
Congenital genitourinary disorders are the third most common congenital anomaly worldwide (1 in 135 births) and include anomalies of both the urinary and genital systems, such as prune belly syndrome (PBS), persistent cloaca, and disorders of sex development (DSD). Understanding the genetic cause …
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Porphyrin metabolism in congenital erythropoietic porphyria
… from the urine and plasma of patients with congenital erythropoietic porphyria (CEP) by high-performance liquid chromatography and characterized by liquid secondary ion mass spectrometry and chemical properties. The physico-chemical properties of these compounds have been studied. The …
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Congenital Disorder of Glycosylation (CDG) - Ih
Congenital Disorders of Glycosylation (CDG) comprise a rapidly growing group of multisystemic inherited disorders caused by mutations in genes which are required for the biosynthesis of glycoproteins. Here the molecular defect in a new type of CDG with an unusual clinical phenotype and a difficult …
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Congenital defects of the skin in cattle
Typescript (photocopy).
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Congenital defects of the skin in cattle
Typescript (photocopy).
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A molecular-genetic study of Congenital Nystagmus
… seems to be inherited as an isolated trait (Congenital Idiopathic Nystagmus), it may be possible to identify some of the genetic causes of this disorder and subsequently understand the pathophysiology.<br/>This thesis describes a molecular genetic study of congenital nystagmus. A clinical …
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Congenital Diaphragmatic Hernia and Extracorporeal Membrane Oxygenation
Contains fulltext : mmubn000001_253710626.pdf (Publisher’s version ) (Open Access)
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Cardiovascular disease in patients with congenital heart disease
Background: Today, about 95% of children with congenital heart disease (CHD) survive into adulthood and the survival in patients with CHD has increased considerably during the last decades. With increasing age, patients with CHD are at an increased risk of developing acquired cardiovascular …
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Omics-driven Insights into Congenital Disorders of Glycosylation
Contains fulltext : 327958.pdf (Publisher’s version ) (Open Access)
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Engineering Biodegradable Vascular Scaffolds for Congenital Heart Disease
The most common birth defects worldwide are congenital heart defects. To treat these malformations in a child’s cardiovascular system, synthetic grafts have been used as a primary intervention. However, current grafts suffer from deficiencies such as minimal biological compatibility, inability to …
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Adults with congenital heart disease: the patients' perspective.
… resulted in more than 90% of children born with congenital heart disease (CHD) surviving and reaching adulthood. This new patient population has been largely overlooked in recent policy and practice developments in health and social care. Evidence available at the start of the study confirmed …
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Lung Function after Repair of Congenital Diaphragmatic Hernia
"국문요약 차례 표차례 서론 연구대상 및 방법 결과 고찰 결론 참고문헌 ABSTRACT"
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Congenital syphilis : a study at Provincial Hospital Uitenhage
… diagnosis was not made in forty cases of Early Congenital Syphilis. Objectives: 1. To establish the percentage of patients with syphilis at delivery and possible association between unbooked status and positive syphilis serology. 2. To determine the Perinatal Mortality Rate and establish what …
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The period prevalence of congenital cervical spine anomalies and the association between the congenital anomalies with the subject's presenting clinical features
A dissertation submitted in partial compliance with the requirements for a Master's Degree in Technology: Chiropractic, Durban Institute of Technology, Durban, South Africa, 2006.
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IS B4GALT5 DEFICIENCY A NEW CONGENITAL DISORDER OF GLYCOSYLATION?
… were found responsible for two human congenital disorders of glycosylation (CDG) characterized by clinical pictures not really predicted by the corresponding mouse KO models. Previous studies showed that two similar galactosyltransferases, B4GALT5 and B4GALT6, are both responsible for …
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