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Dissertations / Theses on the topic 'Molecular genetics'

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1

Bruiners, Natalie. "Molecular genetic analysis of preterm labour." Thesis, Stellenbosch : Stellenbosch University, 2007. http://hdl.handle.net/10019.1/17741.

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Thesis (MSc)--University of Stellenbosch, 2007.<br>ENGLISH ABSTRACT: The World Health Organisation (WHO) has defined preterm labour as the onset of labour before 37 completed weeks of gestation with an incidence ranging between 5-10%. Although patient care has improved, the rate of preterm birth has slowly been increasing and currently impacts significantly on maternal and fetal mortality and morbidity. The complex condition of preterm labour involves multiple etiologies and risk factors, which complicates the search for candidate markers and / or biomarkers. The aim of this prospective
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2

Fourie, Mariesa. "Molecular characterization and further shortening of recombinant forms of the Lr19 translocation." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/189.

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3

Hedmark, Eva. "Conservation Genetics of Scandinavian Wolverines." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6636.

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4

Howell, Viive Maarika. "Molecular Genetics of Hyperparathyroidism." University of Sydney, 2005. http://hdl.handle.net/2123/6022.

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Doctor of Philosophy(PhD)<br>Hyperparathyroidism, a disease of the parathyroid glands, is one of the most common endocrinopathies, having a prevalence of 1 – 3 per 1000 individuals. It is characterised by calcium insensitive hypersecretion of parathyroid hormone, and increased cell proliferation. While the treatment for familial as well as many sporadic tumours associated with hyperparathyroidism includes parathyroidectomy, the extent of surgery and the follow-up monitoring regime, are dependent on accurate clinical and histopathological classification of the lesion. However, overlaps in histo
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5

Wallace, Robyn. "Molecular genetics of epilepsy /." Title page, contents and summary only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09phw193.pdf.

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Thesis (Ph. D.)--University of Adelaide, Dept. of Paediatrics, 1997.<br>Errata pasted onto back end-paper. Copies of author's previously published articles inserted. Includes bibliographical references (leaves 157-176).
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6

Busfield, Frances. "Molecular genetics of dementia." Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336329.

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7

Hill, Margaret J. "Molecular genetics of tabtoxin." Thesis, University of East Anglia, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.292600.

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8

Asumalahti, Kati. "Molecular genetics of psoriasis." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/asumalahti/.

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9

Law, Bic-fai Fian, and 羅璧輝. "Molecular genetics of esophageal squamous cell carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3660446X.

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10

Sjödin, Per. "Effects of Selection and Demography on DNA Polymorphism in Black Mustard (Brassica nigra)." Doctoral thesis, Uppsala universitet, Evolutionär funktionsgenomik, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6633.

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The evolution of three genes from the CONSTANS-LIKE gene family is studied in Brassica nigra. We use a combination of population genetic and phylogenetic techniques in order to assess the relative importance of selection and demography on the pattern of DNA variation. The analysis is complicated by the fact that they are recent duplicates of each other and hence there is a potential redundancy factor that has to be considered. The relationship between two of the genes, COa and COb, is however much closer than between any relationship to the third gene, COL1. The three genes are all suspected t
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11

Bitalo, Daphne Nyachaki. "Implementation of molecular markers for triticale cultivar identification and marker-assisted selection." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/71670.

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Thesis (MSc)--Stellenbosch University, 2012.<br>Triticale is an amphidiploid that consists of wheat (A and B) and rye (R) genomes. This cereal is fast becoming important on a commercial basis and warrants further assessment for the better management and breeding of the hybrid. The assessment of the genetic diversity among the wheat and rye genomes within triticale can be obtained by using molecular markers developed in both donor genomes. Simple sequence repeats markers (SSRs) and amplified fragment length markers (AFLPs) have been previously used to assess the genetic diversity among tritical
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12

Liu, Shaolin 1968. "Oligonucleotides applied in genomics, bioinformatics and development of molecular markers for rice and barley." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=85569.

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A genome sequence can be conceptualized as a 'book' written with four nucleotide 'letters' in oligonucleotide (oligo) 'words'. These words can be used in genomics, bioinformatics and the development of molecular markers. The whole-genome sequence for rice (Oryza sativa L.) is almost finished and has been assembled into pseudomolecules. For barley ( Hordeum vulgare L.) expressed sequence tags (ESTs) have been assembled into 21,981 tentative consensus sequences (TCs). The availability of such sequence information provides opportunities to investigate oligo usage within and between genomes
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13

Soler, del Monte Marçal. "Molecular genetics of cork formation." Doctoral thesis, Universitat de Girona, 2008. http://hdl.handle.net/10803/7629.

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La peridermis és una estructura complexa que protegeix els òrgans vegetals madurs (secundaris) i les zones que han sofert ferides de la pèrdua d'aigua i dels patògens. Aquesta funció barrera és deguda al fel·lema o súber, un teixit format per cèl·lules suberificades. Tant el fel·lema com la suberina són crucials per la vida de les plantes terrestres, però pràcticament no es coneix res dels processos moleculars que regulen la seva formació, probablement degut a la manca de models adequats. En aquesta tesi s'han identificat i caracteritzat gens induïts al fel·lema mitjançant la combinació de due
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14

Cox, Joanne Mary. "Molecular genetics of Campylobacter species." Thesis, University of Leicester, 1997. http://hdl.handle.net/2381/29782.

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Campylobacter species are becoming increasingly significant to the health of humans. Campylobacters are notably difficult to isolate, maintain and manipulate and the use of molecular biology techniques is very limited. As a result few genes have been identified from this bacterium and little is known of its association with humans or animal disease in comparison to other enteric pathogens. A specifically targeted strategy employing the polymerase chain reaction with degenerate oligonucleotide primers (PCRDOP) was used to successfully clone portions of the C. upsaliensis flagellin genes, fla1 a
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15

Wilson, Peter John. "Molecular genetics of Hunter syndrome /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phw7521.pdf.

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16

Scrable, Heidi. "Molecular genetics of childhood rhabdomyosarcoma." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=74265.

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Rhabdomyosarcoma is a class of malignant neoplasms composed of cells histologically resembling fetal striated muscle. It is the most common soft tissue tumor of children, adolescents, and young adults. In this Thesis, I demonstrate that the rhabdomyosarcoma tumor class is delimited in molecular genetic terms by the expression of the MyoD gene, and that loss of alleles on chromosome 11 distinguishes between the embryonal and alveolar subtypes. The elucidation of this genotypic distinction resolved the paradox between phenotypic variation and an apparent histogenetic relatedness between and amon
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17

Barnby, Gabrielle. "The molecular genetics of autism." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.289350.

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18

MacPhie, Ian Laurence. "The molecular genetics of dyslexia." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.400145.

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19

Bowl, Michael Richard. "Molecular genetics of hypoparathyroid disorders." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275359.

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20

Chapman, Jade. "Molecular genetics of developmental dyslexia." Thesis, Cardiff University, 2011. http://orca.cf.ac.uk/55076/.

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Developmental Dyslexia (DD) is a complex, cognitive disorder which is characterised by an impairment in reading despite adequate educational, motivational and intellectual opportunities. Family and twin studies have shown that this common neurodevelopmental disorder has a highly heritable component. The aim of this thesis was to identify novel susceptibility variants for DD using several approaches. A candidate gene study was conducted, testing variants within the genes CDC42, PRTG, KIAA0319L, DCDC2b and RIOK3 for association with DD in the Cardiff case-control sample. None of the variants wit
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21

Shearman, Jeremy David. "The molecular genetics of haemochromatosis." Thesis, University of Oxford, 1996. http://ora.ox.ac.uk/objects/uuid:ecb03d17-3cbf-4147-91aa-f252a2e5137e.

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Haemochromatosis is the most common single gene disorder to afflict North- West European populations. It is probably the most common genetic disorder of iron metabolism worldwide. As many as 1 in 250 people in the UK are affected and although the phenotype causes only a mild increase in gastrointestinal iron absorption a proportion of affected individuals will accumulate sufficient iron over their life-time to cause cirrhosis and hepatocellular carcinoma. Venesection treatment instituted before cirrhosis has established ensures a normal life expectancy, but clinical presentation is often late
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22

Dobson-Stone, Carol N. M. "Molecular genetics of chorea-acanthocytosis." Thesis, University of Oxford, 2004. http://ora.ox.ac.uk/objects/uuid:3992386d-7d0d-4b88-bcf6-7170e2ba98cc.

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Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. The disorder shares features with Huntington's disease and McLeod syndrome (MLS), and can sometimes be difficult to distinguish clinically from the latter. In 1997, ChAc was linked to a 6-cM region on chromosome 9q21-22. A novel gene, >em>CHAC, was identified in the critical region. CHAC (now renamed VPS13A) encodes a large protein called chorein, with a yeast homologue implicated in protein sorting. In this study, all
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23

Porter, Timothy Robin. "Molecular genetics of gastrointestinal cancer." Thesis, University of Birmingham, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.273741.

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24

Irving, Michael Richard. "Molecular genetics of vestibular schwannoma." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338957.

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25

Nash, Edmund Augustine. "Molecular genetics of dinoflagellate mitochondria." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612522.

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26

Kandaswamy, R. "Molecular genetics of bipolar disorder." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1370613/.

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Bipolar affective disorder has a strong genetic heritability. In the UCL laboratory, a locus on chromosome 1p36 was found to be linked to bipolar and related unipolar affective disorders with a log of the odds score above 3.00. This region was subjected to fine mapping using tests of allelic association in a case-control sample as part of this thesis in order to identify the genes involved in bipolar disorder. In addition, a GWAS was also employed to fine map other bipolar affective disorder susceptibility genes. The tests of allelic association found evidence for the involvement of the PRKCZ
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27

Gaw, Allan. "Molecular genetics of lipoprotein(a)." Thesis, University of Glasgow, 1995. http://theses.gla.ac.uk/4015/.

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The work presented in this thesis aims to extend our understanding of controlling mechanisms that influence the plasma concentration of lipoprotein(a) [LP(a)]. The techniques of apo(a) genotyping and apo(a) phenotyping are used to study Lp(a) in different ethnic and genetic groups to achieve this end. In chapter 3 the effective use of a commercially available monoclonal antibody is demonstrated. Two primary antibodies were compared and apo(a) isoform analysis was performed using an immunoblotting method. With both monoclonals it was possible to detect 0.05mg. dL-1 Lp(a). Distributions of plasm
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28

Nudel, Ron. "Molecular genetics of language impairment." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:70249129-ef2e-4508-b8f6-50d6eae8e78b.

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Developmental language impairments are neurodevelopmental disorders in which the acquisition of language, a task which children typically perform with ease, is hindered or fraught with difficulty. This work focuses on specific language impairment (SLI), a common and highly heritable language impairment in which language development is abnormal while other developmental domains are normal. Additionally, a case-study of a child with a broader linguistic and behavioural phenotype is also presented. The work described in this thesis includes both genetic and functional investigations which were ai
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29

Edghill, E. L. "Molecular genetics of monogenic diabetes." Thesis, Exeter and Plymouth Peninsula Medical School, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.700493.

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30

Alonso, Diego Peres [UNESP]. "Utilização de marcadores moleculares no estudo populacional de Leishmania infantum chagasi no Brasil." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/102700.

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Made available in DSpace on 2014-06-11T19:32:14Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-04-08Bitstream added on 2014-06-13T21:03:46Z : No. of bitstreams: 1 alonso_dp_dr_botib.pdf: 2450212 bytes, checksum: 69bde7499141345fa0f0677e44f46b4f (MD5)<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)<br>Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)<br>A leishmaniose é uma doença parasitária causada por protozoários do gênero Leishmania, e transmitida através da picada de fêmeas de mosquitos da família Plebotomidae. As formas clínicas da leishmanios
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31

Sene, Viviani França [UNESP]. "Citogenética molecular e caracterização cromossômica no gênero Eigenmannia (Teleostei, Gymnotiformes, Sternopygidae)." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/99394.

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Made available in DSpace on 2014-06-11T19:30:12Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-07-29Bitstream added on 2014-06-13T20:39:50Z : No. of bitstreams: 1 sene_vf_me_botib.pdf: 1250166 bytes, checksum: ef91b80ce3068f6731dda41593edae4e (MD5)<br>Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)<br>Foram analisadas seis espécies/citótipos de peixes do gênero Eigenmannia, Eigenmannia sp1, Eigenmannia sp2, E. cf. trilineata, Eigenmannia sp e dois citótipos de E. virescens de diferentes bacias hidrográficas brasileiras, com o uso de técnicas citogenéticas básicas (color
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32

Chen, Lei. "Molecular Tools for Biomarker Detection." Doctoral thesis, Uppsala universitet, Molekylära verktyg, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-331745.

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The advance of biological research promotes the emerging of new methods and solutions to answer the biological questions. This thesis describes several new molecular tools and their applications for the detection of genomic and proteomic information with extremely high sensitivity and specificity or simplify such detection procedures without compromising the performance. In paper I, we described a general method namely super RCA, for highly specific counting of single DNA molecules. Individual products of a range of molecular detection reactions are magnified to Giga-Dalton levels that are eas
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33

Meredith, Christopher. "Molecular genetic investigation of autosomal dominant muscular dystrophy." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2001. https://ro.ecu.edu.au/theses/1509.

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This thesis contributes to the Human Genome Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy. Genomic clones for the human skeletal muscle genes slow troponin (TNN/1), alpha actin (ACTA1), and (3-tropomyosin (TPM2) were isolated for use in the fluorescent in situ hybridisation localisation of these genes on the cytogenetic map of the human genome. The localisation of these genes made them potential candidates for inherited skeletal muscle diseases, including the muscular dystrophies investiga
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34

Katzer, Frank. "Molecular genetic and functional analyses of surface molecules of Theileria annulata sporozoites." Thesis, University of York, 1995. http://etheses.whiterose.ac.uk/9778/.

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35

Zhou, Gaoying, and 周高英. "Molecular characterization of chicken SOCS2 gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31480263.

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36

Li, Luosheng. "Molecular genetics of type 2 diabetes /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-194-2/.

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37

Eskandarpour, Malihe. "Molecular genetics of cutaneous malignant melanoma /." Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-277-4/.

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38

Léon, Del Rio Alfonso. "Molecular genetics of holocarboxylase synthetase deficiency." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=29074.

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The objective of this thesis was to determine the molecular basis of neonatal multiple carboxylase deficiency (MCD) produced by an impairment in holocarboxylase synthetase (HCS) activity and the origin of the biotin-responsiveness that characterizes this disease. To determine HCS activity, I developed a peptide substrate and used the biotinylation system of E: coli to determine its properties. C-terminal fragments of the $ alpha$ subunit of human propionyl-CoA carboxylase (PCC-$ alpha$) were expressed in E. coli and site-directed mutagenesis was used to define the residues required for biotiny
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39

Matthews, Deborah Anne. "The molecular genetics of familial psoriasis." Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266107.

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40

Gloyn, Anna Louise. "Molecular genetics of type 2 diabetes." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343364.

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41

Zhang, Yun. "Molecular genetics of type 2 diabetes." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298425.

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42

Owen, Nicholas. "Molecular genetics of spinal muscular atrophy." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342635.

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43

Lok, Chun Yu. "Understanding the molecular genetics of haemochromatosis." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.526485.

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44

Murphy, Morna J. "Molecular genetics of human ovarian cancer." Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317465.

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45

Ellis, David. "The molecular genetics of myelin genes." Thesis, Institute of Cancer Research (University Of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.481211.

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46

Raeder, U. "Molecular genetics of lignin degrading fungi." Thesis, University of Manchester, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.379725.

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47

Davies, Joanna Pauline. "The molecular genetics of Fabry disease." Thesis, University College London (University of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.281738.

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48

Bitner-Glindzicz, Maria Aniela Katarzyna. "Molecular genetics of X-linked deafness." Thesis, University College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.362334.

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49

McGregor, Lesley Karen. "The molecular genetics of Fraser syndrome." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.407507.

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Kelberman, Daniel. "Molecular genetics of complex craniofacial disorders." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250201.

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