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Teses / dissertações sobre o tema "Genetic disorders"

Autor: Grafiati
Publicado: 4 de junho de 2021
Última modificação: 25 de julho de 2025

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1

Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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2

Fung, Hon Chung. "Genetic characterisation of neurodegenerative disorders." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/4930/.

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Our global population is ageing and an ever increasing number of elderly are affected with neurodegenerative diseases, including the subjects of the studies in this work, Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). On strong evidence that several genes may influence the development of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseas
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3

Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.

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Background: Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of making the diagnosis accurately early in the course and the lack of reliable disease progression markers which could be used in future treatment trials. Transcranial magnetic stimulation (TMS) is a non-invasive and pain-free method for assessment of brain function. Methods: Here we evaluated TMS and its potential of serving as a reliable bioma
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4

Migdalska, Anna Marta. "Modelling human genetic disorders in mice." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610341.

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5

Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.<br>Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).
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6

Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variat
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7

Valente, Enza Maria. "Movement disorders : a clinical and genetic study." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.

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8

Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide
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9

Liskova, P. "Molecular genetic study of inherited corneal disorders." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18007/.

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The inherited corneal diseases form a clinically and genetically heterogeneous group of disorders. They include the various types of progressive corneal dystrophies as well as some corneal structural abnormalities for which there is thought to be a genetic basis. These conditions are distinct from the corneal degenerations that result solely from aging or environmental effects. In this thesis I have concentrated on some selected inherited disorders. To try to improve our understanding of the disease mechanisms I have phenotyped affected families, performed candidate gene screening, and made ge
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10

Chen, Huijia. "Skin barrier dysfunction in common genetic disorders." Thesis, University of Dundee, 2011. https://discovery.dundee.ac.uk/en/studentTheses/37ccdf72-e6b2-43e2-b5a0-954be5cb6811.

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One of the most important roles of the skin is the formation of an effective barrier to prevent desiccation as well as to keep out foreign pathogens and allergens. This is a tightly regulated process and involves many structural proteins, lipids, enzymes and biochemical components. One of the proteins that has an indispensable role in barrier formation is filaggrin, which is encoded by the filaggrin gene (FLG) that lies within a cluster of epidermal genes known as the epidermal differentiation complex (EDC) on chromosome 1q21. Recent studies in Europe have shown that null mutations in FLG lead
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11

Wallis, Colin E. "Genetic disorders on the island of Mauritius." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/26606.

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Inherited disorders are an important cause of physical handicap, deafness, mental retardation and blindness. There is considerable variation in the geographic and ethnic distribution of genetic disease due to biological pressures and historical accidents. In this context the relative prevalence of common inherited disorders and the recognition of rare conditions in isolated communities is of great academic importance. Oceanic islands are of special significance in the study of inherited disease. Virtually nothing has been documented concerning genetic disorders on the Island of Mauritius with
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12

Kumar, Kishore Raj. "Advances in genetic studies for movement disorders." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12129.

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Aims: We investigated the genes causing Parkinson disease (PD), dystonia and hereditary spastic paraplegia (HSP). Methods: We performed Sanger sequencing of the GBA, VPS35, PRRT2 and GNAL genes. We sought to identify the cause of ‘hereditary whispering dysphonia’ (DYT4). We investigated a consanguineous Pakistani family with a complex neurological phenotype using next generation sequencing (NGS). We also used ‘targeted’ NGS to screen for a genetic diagnosis in patients with HSP. Results: The findings were as follows; i) GBA mutations were associated with increased susceptibility to PD in a S
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13

Goncalves, Pontes Jacinto Joana <1994&gt. "New perspectives of genetic disorders in cattle." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2022. http://amsdottorato.unibo.it/10418/1/jacinto_joana_tesi.pdf.

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In the last decades a negative trend in inbreeding has accompanied the evident improvement in productivity and performance of bovine domestic population, predisposing to the occurrence of recessively inherited disorders. The objectives of this thesis were: a) the study of genetic diseases applying a “forward genetic approach” (FGA); b) the estimation of the prevalence of deleterious alleles responsible for eight recessive disorders in different breeds; c) the collection of well-characterized materials in a Biobank for Bovine Genetic Disorders. The FGA allowed the identification of sev
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14

Adewuyi, Emmanuel Olorunleke. "Common comorbid disorders in endometriosis patients." Thesis, Queensland University of Technology, 2021. https://eprints.qut.edu.au/212039/1/Emmanuel%20Olorunleke_Adewuyi_Thesis.pdf.

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This PhD project advances our understanding of the relationship between endometriosis and its common comorbid disorders with a focus on asthma, depression, and migraine. Appropriate sets of well-regarded statistical genetic approaches were utilised in the analysis of world-leading genetic data. Findings confirm a comorbid association between endometriosis and each of asthma, depression, and migraine, largely due to shared genetics and biological mechanisms. Causality assessment suggests a potential causal relationship between endometriosis and depression. Further analyses implicate causal link
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15

Ekvall, Sara. "Genetic and Clinical Investigation of Noonan Spectrum Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183325.

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Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. In the first family, the index patient presented with severe Noonan syndrome (NS) and multiple café-au-lait (CAL) spots, while four additional family members displayed multiple CAL spots only. Genetic analysis of four RAS-MAPK genes revealed a de novo PTPN11 mutation and a paternally inherited NF1 mutation, which could explain the atypi
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16

Dixon, Peter Hendy. "Molecular genetic studies of hypophosphataemic and hypoparathyroid disorders." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322579.

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17

Doran, Graeme Paul. "Functional and genetic analysis of human neurological disorders." Thesis, University of Oxford, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543472.

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18

Jarman, Paul Richard. "A molecular genetic study of inherited movement disorders." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154.

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19

Warner, Thomas Treharne. "A molecular genetic study of inherited movement disorders." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.285185.

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20

Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a nov
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21

Li, M. Y. "The genetic and pathological correlations of ataxic disorders." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1404013/.

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This thesis will examine several pure and complex ataxic conditions with a focus on the genetic and neuropathological characterisation of these disorders. These disorders include Hallervorden Spatz syndrome (HSS), infantile neuroaxonal dystrophy (iNAD) both disorders are part of the neurodegeneration with brain iron accumulation (NBIA) spectrum. Mutations in the pantothenate kinase 2 (PANK2) and phopholipase A2 group 6 (PLA2G6) genes contribute to these disorders, respectively. The latter half of the thesis discusses the movement disorders known as the spinocerebellar ataxias (SCAs) with a foc
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22

Maison, Patrick Opoku Manu. "Genetic basis of human disorders of gonadal development." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/28015.

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South Africa is unique in the arena of Intersex, in that for unknown reasons we have a very high percentage of ovotesticular DSD (True Hermaphrodite). Whereas ovotesticular DSD is the least common cause of hermaphroditism in other parts of the world, it is the most common cause of hermaphroditism in South Africa. There have been several studies in the past to determine the cause of ovotesticular DSD in our population but none of these studies found appropriate answers. The current state of understanding implicates signaling and signal transduction molecules and transcription factors suggesting
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23

Modi, Bhavi P. "GENETIC AND EPIGENETIC MECHANISMS OF COMPLEX REPRODUCTIVE DISORDERS." VCU Scholars Compass, 2016. http://scholarscompass.vcu.edu/etd/4574.

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Common, complex disorders are polygenic and multifactorial traits representing interactions between environmental, genetic and epigenetic risk factors. More often than not, contributions of these risk factors have been studied individually and this is especially true for complex reproductive traits where application of genomic technologies has been challenging and slow to progress. This thesis explores the potential of genetic and epigenetic components contributing to a better understanding of the biological pathways underlying disease risk in two specific female complex reproductive traits -
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24

Ylönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.

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Abstract Parkinson’s disease and Huntington’s disease are progressive neurodegenerative movement disorders that typically manifest in adulthood. In this study, genetic risk factors contributing to these two movement disorders were investigated in Finnish patients. Patients with early-onset or late-onset Parkinson’s disease as well as population controls were examined. The p.L444P mutation in GBA was found to contribute to the risk of Parkinson’s disease. POLG1 compound heterozygous mutations were detected in two patients with Parkinson’s disease and rare length variants in POLG1 were associate
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25

ANNUNZIATA, SILVIA. "Genetic and phenotypic characterization of Autism Spectrum Disorders." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1452943.

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26

McGregor, Nathaniel Wade. "The identification of novel susceptibility genes involved in anxiety disorders." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/95859.

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Thesis (PhD)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: The etiology of anxiety disorders remains incompletely understood. Clear evidence for a genetic component has been proposed; however, there is also an increasing focus on environmental factors and the interaction between these and the genetic components that may mediate (anxiety) disorder pathogenesis. No single gene or genetic component has been explicitly identified as being involved in the development of anxiety disorders. This is most likely due to a number of reasons, which include, for example, the heterogeneity of anxiet
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27

Codina, i. Solà Marta 1988. "Genetic variation and complex rearrangements in Autism Spectrum Disorders: implications for genetic counseling." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/388031.

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The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific genetic counseling for families and, eventually, the development of personalized therapeutic strategies. In this thesis, we have applied several recent sequencing technologies and adapted pipelines to its study. We have investigated the role of rare variants and its transcriptional consequences and explored the contribution of complex rearrangements to its missing heritability.
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28

Liu, Xuan, and 劉絢. "BARF1 sequence analysis and functional significance in EBV-Related disorders." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B36190445.

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29

Melley, Caitlin. "Surgical fetal intervention assessing the current practices of genetic counselors /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23321.

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30

Dahlqvist, Johanna. "Genetic and Molecular Studies of Two Hereditary Skin Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-149185.

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Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. The aims of the present study were to identify the mutant genes in two autosomal recessive skin disorders and to characterize the functions of the mutated genes.  In order to identify candidate genes for the two disorders whole-genome SNP analysis, homozygosity mapping and gene sequencing were used. Autosomal recessive congenital ichthyosis (ARCI
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31

Bergman, Olle. "On the influence of dopamine-related genetic variation on dopamine-related disorders /." Göteborg : Department of Pharmacology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, 2009. http://hdl.handle.net/2077/21077.

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32

Stattin, Eva-Lena. "Clinical and genetic studies of three inherited skeletal disorders." Doctoral thesis, Umeå universitet, Medicinsk och klinisk genetik, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22402.

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Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. A five generation family segregating autosomal dominant osteochondritis dissecans (OCD) was identified. Affected family members presented with OCD in knees, hips and elbows,
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33

Al-Abri, Mohammed Ali. "Genetic variability of health disorders in Ontario Holstein cows." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112310.

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Extensive emphasis on selection for milk yield with minimal attention to the animals' functional performance has increased the yield of North American dairy cattle. The high intensity of selection for production traits such as milk yield, protein yield and fat yield has also brought about a rapid increase in genetic relationships among animals. In dairy cattle, correlated response to selection for milk yield includes fertility and susceptibility to diseases. Although the high producing cows have greater net profit, they also have higher mammary and discarded milk costs associated with high pro
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34

Eicher, John Dickinson. "Examining the Genetic Underpinnings of Commonly Comorbid Language Disorders." Thesis, Yale University, 2014. http://pqdtopen.proquest.com/#viewpdf?dispub=3580677.

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<p> Impairments in various aspects of language, including the manipulation and comprehension of verbal and written language, are common in pediatric populations. Some disorders of language are secondary to other clinical presentations, while others, such as dyslexia (or reading disability [RD]), language impairment (LI), speech sound disorder (SSD), and autism spectrum disorders (ASD), have primary deficits in language skills. Each of these is a distinct disorder with unique clinical presentations and deficits. For instance, children with RD have deficits in reading and the use of written lang
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35

Clarke, Samantha Elizabeth. "Quality of life of people with rare genetic disorders." Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/6192/.

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Volume One focuses on the quality of life (Qol) of those with intellectual disabilities, commencing with a systematic review of established Qol measures to identify how these measures have been utilised and the factors that have been explored. In the resulting papers, environmental factors were considered more frequently than individual characteristics. Further research is needed for the continued development of Qol measures in order to provide services with a pragmatic way of documenting change and encourage continued focus on the individual. The empirical paper focuses on the health related
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36

Sailer, A. M. E. "Genetic analysis of multiple system atrophy and related disorders." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1427436/.

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Multiple system atrophy is a sporadic neurodegenerative disorder presenting clinically with parkinsonism, ataxia and autonomic dysfunction in variable combinations. It is clinically and pathologically heterogenous but unified by the key pathological finding of alpha-synuclein containing glial cytoplasmic inclusions. Little is known about the pathogenesis of this relatively newly defined sporadic disease. In this PhD I will present an analysis of different genetic risk factors as in many diseases, in particular neurodegenerative disorders, the study of genetics has revealed important knowledge
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37

Petropoulou, Evmorfia. "Investigating the underlying genetic mechanisms of inherited cardiac disorders." Thesis, St George's, University of London, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.753990.

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Sudden cardiac death (SCD) is the most common cause of death worldwide, responsible for more than 50% of all deaths. SCD is associated with inherited cardiac conditions (ICCs) such as channelopathies and cardiomyopathies, that are heterogeneous disorders affecting the function and the structure of the myocardium. ICCs are predominantly Mendelian conditions whieh often present with reduced penetrance and variable expressivity. However, the underlying genetic cause is often not explained by screening for the current known genes, supporting the utility of whole exome and whole genome sequencing i
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38

Sucheston, Lara E. "STATISTICAL METHODS FOR THE GENETIC ANALYSIS OF DEVELOPMENTAL DISORDERS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=case1175883318.

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39

Nahas, Shareef Amin. "Mechanisms of cellular radiosensitivity and human molecular genetic disorders." Diss., Restricted to subscribing institutions, 2008. http://proquest.umi.com/pqdweb?did=1581479791&sid=1&Fmt=2&clientId=1564&RQT=309&VName=PQD.

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40

Ichikawa, Shoji. "The molecular genetic analysis of three human neurological disorders." free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.

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41

GEMELLI, CHIARA. "Genetic approach to neuromuscular disorders in the NGS era." Doctoral thesis, Università degli studi di Genova, 2022. http://hdl.handle.net/11567/1089374.

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Introduction/aims. Currently, there are no straightforward guidelines for the clinical and diagnostic management of neuromuscular disorders. Therefore, I have aimed to describe the diagnostic workflow which is used in my neuromuscular clinic for evaluating patients with this condition. The neuromuscular clinic is situated in IRCCS Policlinico San Martino in Genova and is a neuromuscular university centre in Northwest Italy. Methods. I describe our diagnostic approach to two frequent neuromuscular disorders: hyperCKemia and CMT neuropathy. The first work is an Italian multicentre study evalu
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42

Zhang, Lu, and 张璐. "Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48521905.

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With the completion of human genome sequencing project and the rapid development of sequencing technologies, our capacity in tackling with genetic and genomic changes that underlie human diseases has never been greater. The recent successes in identifying disease causal single nucleotide variations (SNVs) for Mendelian disorders using whole exome sequencing may bring us one step further to understand the pathogenesis of Mendelian diseases. However, many hurdles need to be overcome before the promises can become widespread reality. In this study, we investigated various strategies and desi
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43

Ying, Dingge, and 应鼎阁. "Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/205837.

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Recent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes of identity by descent (IBD) could facilitate discovery of these mutations. Several programs address this such as threshold-based methods on genetic distance and probabilistic model-based methods, but they are usually limited to only detecting pair-wise shared haplotypes and not providing a comparison between cases and controls. In this study, a novel algorithm and a applied software package (HaploShare)is developed to detect extended haplotypes that are shared by multi
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44

Carss, Keren Jacqueline. "Identifying and modelling genes that are associated with rare developmental disorders." Thesis, University of Cambridge, 2015. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708682.

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45

Yip, Poon-chi Benedict. "Uses of short tandem repeats in the diagnosis of genetic diseases /." Hong Kong : University of Hong Kong, 1997. http://sunzi.lib.hku.hk/hkuto/record.jsp?B18865458.

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46

Melville, Scott Andrew Biotechnology &amp Biomolecular Sciences Faculty of Science UNSW. "Disease gene mapping in border collie dogs." Awarded by:University of New South Wales. School of Biotechnology and Biomolecular Sciences, 2006. http://handle.unsw.edu.au/1959.4/25511.

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Pedigree dog breeds are genetically isolated and inbred populations with characteristics specific to each breed. Some breeds carry genetic diseases which affect the health of the animals, but may also serve as a valuable model to identify genes involved in human disease. In the Border Collie breed in Australia, the identification of two disease genes would enable breeders to DNA test their animals and prevent future cases. Over 530 samples were collected to identify the genes responsible for these diseases through linkage mapping and candidate gene approaches. Collie Eye Anomaly (CEA) defines
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47

Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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48

Gauthier, Julie. "Genetic investigation of pervasive developmental disorders in the Quebec population." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=100369.

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Pervasive developmental disorders are a group of neurodevelopmental-neuropsychiatric disorders that are characterized by variable and severe pervasive impairments in several areas of child development, notably social interaction, communication and imagination. They all share clinical features but differ in the severity and age of onset of the impairments. Except for Rett Syndrome (RTT), the etiology of these disorders is unknown, but there is strong evidence that genetic factors contribute to their pathogenesis. While no major genes have been linked to theses disorders linkages, association an
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Zhang, Ying. "Exploring functional genetic variants in genes involved in mental disorders." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1186433668.

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Kostareva, Anna. "Genetic and pathophysiological study of desmin derangements in cardiac disorders /." Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-294-1/.

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