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Showing 1 to 20 of 625 for “"congenital"”.

  1. Congenital Hypertrophic Pyloric Stenosis

    <p><strong>[Abstract Not Included]</strong></p> <p><strong>[Signature page Not Included]</strong></p>

    loma-linda Repository record for Congenital Hypertrophic Pyloric Stenosis (opens in a new tab)

  2. 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 …

    utswmed Repository record for Genomic Approaches to Congenital Genitourinary Disorders (opens in a new tab)

  3. 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 …

    the-open-u Repository record for Porphyrin metabolism in congenital erythropoietic porphyria (opens in a new tab)

  4. 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 …

    goettingen Repository record for Congenital Disorder of Glycosylation (CDG) - Ih (opens in a new tab)

  5. 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 …

    soton Repository record for A molecular-genetic study of Congenital Nystagmus (opens in a new tab)

  6. Congenital Diaphragmatic Hernia and Extracorporeal Membrane Oxygenation

    Contains fulltext : mmubn000001_253710626.pdf (Publisher’s version ) (Open Access)

    radboud Repository record for Congenital Diaphragmatic Hernia and Extracorporeal Membrane Oxygenation (opens in a new tab)

  7. 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 …

    maryland Repository record for Engineering Biodegradable Vascular Scaffolds for Congenital Heart Disease (opens in a new tab)

  8. 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 …

    bournemouth Repository record for Adults with congenital heart disease: the patients' perspective. (opens in a new tab)

  9. Lung Function after Repair of Congenital Diaphragmatic Hernia

    "국문요약 차례 표차례 서론 연구대상 및 방법 결과 고찰 결론 참고문헌 ABSTRACT"

    ajou Repository record for Lung Function after Repair of Congenital Diaphragmatic Hernia (opens in a new tab)

  10. 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 …

    cape-town Repository record for Congenital syphilis : a study at Provincial Hospital Uitenhage (opens in a new tab)

  11. 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 …

    milano Repository record for IS B4GALT5 DEFICIENCY A NEW CONGENITAL DISORDER OF GLYCOSYLATION? (opens in a new tab)

  12. 3D printing of cardiac structures in congenital heart disease

    Congenital heart disease (CHD) is the most common congenital disorder diagnosed in newborns. It afflicts approximately 0.8% to 1.2% of live births worldwide but the mortality rate and incidence vary around the world. CHD is categorized as one or more abnormalities of the heart or great vessels from …

    malta Repository record for 3D printing of cardiac structures in congenital heart disease (opens in a new tab)

  13. UNDERSTANDING PLACENTAL IMMUNITY: CYTOKINE CONTROL OF CONGENITAL VIRAL INFECTION

    … fetus, and cause adverse pregnancy outcomes or congenital disease. To combat this, the placenta has evolved potent defenses including the constitutive secretion of antiviral factors called cytokines. Previous work has identified antiviral cytokines in the placenta that restrict congenital viral …

    penn Repository record for UNDERSTANDING PLACENTAL IMMUNITY: CYTOKINE CONTROL OF CONGENITAL VIRAL INFECTION (opens in a new tab)

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