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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 20 of 182 for “"Medical Genetics"”.
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Universal Lynch Syndrome Screening in Newly Diagnosed Colorectal Cancer: Impact of an Alberta-wide Screening Program
… well as an increased odds of being referred to medical genetics after program implementation. An absolute reduction in mean time from cancer diagnosis to all key clinical touchpoints was seen (not statistically significant). After implementation there was no significant difference in screen …
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Diachronous vs. Synchronous Study of Obsolescence
… and diachronous--within the subject of human and medical genetics. Synchronous studies are made on records of use or bibliographic references made at one point in time and compare the use against the age dis
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Population Genetic Annotation of the Human Genome: Identifying Pathogenic Mutations
… have been a series of breakthroughs in human genetics. The advent of next-generation sequencing (NGS) has made it possible, for the first time, to sequence an entire human genome inexpensively and efficiently. The affordability and ease of NGS has led to an explosion of data. Now, the largest …
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Cytogenetic and Molecular Cytogenetic Markers in Patients with Multiple Myeloma - Prognostic Significance // Цитогенетични и молекулярно-цитогенетични маркери при пациенти с множествен миелом – прогностично значение
… 110 patients analysed in the Laboratory of Medical Genetics at St. Marina University Hospital – Varna. Conventional cytogenetic analysis was performed at diagnosis in 97 of the patients. It was successful in 83 of them, and in 14, no metaphases were found for analysis despite culture. Of the …
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Evaluation of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents
<p>Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical …
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Content Analysis of Consent Forms for Clinical Whole Exome Sequencing
… of Bioethical Issues and the American College of Medical Genetics and Genomics (ACMG) regarding informed consent for clinical genome scale sequencing. Recommendations of the Presidential Commission for the Study of Bioethical Issues and ACMG were organized into a framework of 18 key points for …
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Evaluation of Current Thrombophilia Screening Practices of Internists, Family Physicians, and Obstetricians/Gynecologists: Factor V Leiden Genetic Testing and Referral Patterns
… organizations, such as the American College of Medical Genetics (ACMG) and the College of American Pathologists (CAP), have published recommendations about the optimal time to test individuals for FVL by mutation analysis. Multiple studies have shown inconsistencies in the ability of physicians …
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Applying ancestry tracts to human genetics: disentangling admixture history and characterizing gene conversion
… variety of inference problems in population and medical genetics. Here I propose new methods for studying admixture demography and inferring non-crossover gene-conversion from admixture tracts. First, I present PAPI (Parental Admixture Proportion Inference), a Bayesian tool for inferring …
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Spanish-Speaking Limited English-Proficient Patient Satisfaction and Comfort When Comparing Spanish-Speaking Provider to An Interpreter
… genetic counseling services in the prenatal and medical genetics settings. In addition to investigating comfort and satisfaction in these two groups, this study set out to explore possible hindrances in care when an interpreter is utilized. A total of 55 LEP Spanish-speaking participants were …
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Identifying the benefits and disbenefits of clinical genetics services: a framework for economic evaluation
… methods of data collection were adopted and a UK medical genetics service was used as a case study. Face-to-face interviews with genetic service providers were undertaken in Phase One to explore patient pathways and the perceived role of the service. Focus groups and face-to-face interviews with …
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Needs Analysis of Genetics and Genomics in Communication Sciences and Its Disorders: Evidence for Change
… survey the current state of the perceptions of genetics and genomics in educational and clinical practices within the field speech-language pathology. Method: Seventy-five program directors of degree programs and 265 speech-language pathologists participated in two web-based surveys. Results: …
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Assessing Genetics Providers' Perspectives of and Experiences with DTC Genetic Testing: Creation of an Educational Module
… genetic testing exemplifies the evolution of the medical genetics field towards more encompassing genomic medicine and the implementation of personalized medicine. This "at home" type of genetic testing can be ordered from the Internet and mailed for analysis without the involvement of healthcare …
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Genome-wide Genotype Imputation-Aspects of Quality, Performance and Practical Implementation
… and genotype is one of the central themes in medical genetics. Single-nucleotide polymorphisms are easily assessable markers allowing genome wide association (GWA) studies and meta-analysis. Hundreds of such analyses were performed in the last decades. Even though several tools for such …
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Senyvo amžiaus asmenų fizinio aktyvumo lygis esant sarkopenijai: sisteminė literatūros apžvalga /
… Valentina Ginevičienė, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Keywords: sarcopenia, resistance training, physical activity. Aim of the study: To analyze physical activity levels in elderly with sarcopenia, based on …
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Development of Models for the Action of Novel Anti-apoptotic Proteins using Gene Regulation, Pathway Analysis and Protein Structure Prediction
Cancer refers to a large and complex group of diseases that can be caused by multiple genetic and environmental factors. Many cancers are associated with the dysregulation of tumour-suppressor genes. Some of these cancers, such as non-small cell lung cancer (NSCLC), can only be detected at an …
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Craniosynostosis in a South Africa population
… a multidisciplinary team that should include a medical geneticist. The recognition of specific craniosynostosis syndromes together with appropriate molecular testing can be cost effective even in a limited resource setting and aid in accurate prognosis and recurrence risk information for …
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Leveraging Whole Genome Sequences to Compare Mutational Mechanism and Identify Medically Relevant Variation in African versus Non-African Descend Populations
… (of which every 50 samples mimicked the genetics background of African and European, respectively) at different coverage (high and low). In particular, the sensitivity to discover polymorphisms was done by nine different VC tools. These tools were assessed in term of false …
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Laying the Foundation in Genetic Medicine: Understanding Why African Americans and Hispanic/Latinos are Underrepresented in Genetic Testing and in Genetic Research
… less visible when it comes to participating in medical genetics research opportunities and also in genetic testing (Shavers, Lynch, & Burmeister, 2002). Lack of participation among African-American individuals can attributed to mistrust, due to past misuse in clinical research settings such as …
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Dental implications of genetic and congenital intellectual disabilities in Cape Town
… problem which has many social, financial, medical and dental implications in South Africa. The severity of the ID varies, ranging from mild to profound impairment and numerous environmental and genetic factors play a role in the aetiology. Oral health is crucial to the overall health and …
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Genetic linkage studies in Huntington's disease
… of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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