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Dissertations / Theses on the topic 'Genetic aspects'

Author: Grafiati

Published: 4 June 2021

Last updated: 31 July 2024

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1

Singleton, Andrew B. "Genetic aspects of dementia." Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299652.

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2

Curragh, H. J. "Aspects of genetic instability in lactobacilli." Thesis, Queen's University Belfast, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.384494.

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3

Pennington, Catherine Margaret. "Genetic aspects of human prion diseases." Thesis, University of Edinburgh, 2013. http://hdl.handle.net/1842/24216.

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Introduction: Human prion diseases are progressive, fatal neurological conditions linked to conformational changes in the structure of the prion protein. Prion diseases may be sporadic (sporadic Creutzfeldt-Jakob disease or sCJD, Sporadic Fatal Insomnia), acquired (variant CJD, iatrogenic CJD, kuru) or genetic (genetic prion disease, gPD). gPD is due to a disease-specific point or octapeptide repeat insertion (OPRI) mutation in the prion protein gene (PRNP). Numerous different PRNP mutations have been described. In some cases of gPD the phenotype may closely resemble that of sCJD, and it can b

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4

Bley, Tim. "Genetic aspects of labrador retriever myopathy /." [S.l.] : [s.n.], 2001. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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5

Hayat, Roshanai Afsaneh. "Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer." Doctoral thesis, Uppsala universitet, Vårdvetenskap, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128870.

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The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. Participants (n=214) reported a relatively high level of anxiety but a low level of depression compared to cancer patients in general. However, there was no indication that the distress experienced was due to the counseling. Moderate changes in life and family re

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6

Parelli, Francisco Paulo Contador [UNESP]. "Papel de polimorfismos genéticos nos genes IL10, TNF e LTA na hanseníase." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/89944.

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Made available in DSpace on 2014-06-11T19:24:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-06-30Bitstream added on 2014-06-13T18:52:00Z : No. of bitstreams: 1 parelli_fpc_me_botfm.pdf: 1098143 bytes, checksum: 1014f8698e96235c1c64a333e1b81527 (MD5)<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)<br>Universidade Estadual Paulista (UNESP)<br>Visando contribuir para o melhor entendimento do papel dos polimorfismos em genes de citocinas na susceptibilidade para hanseníase, foi conduzido um estudo de associação do tipo caso-controle investigando polimorfismos de

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7

Zhao, Wei, and 趙煒. "BRAF mutation and aberrant methylation of gene promoters in the pathogenesis of gastrointestinal tract adenocarcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B36718464.

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8

Stolk, Megan. "Characterisation of novel TAC3 a d TACR3 gene variants and polymorphisms in patients with pre-eclampsia /." Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/1748.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.<br>In South Africa, pre-eclampsia is the second highest cause of maternal deaths. The incidence of this disease in the Western Cape alone is 6.8% and places a large burden of health care facilities. The placenta and implantation thereof is thought to play the most significant role in the onset of this disease. Among the many theories for its aetiology, is the acknowledged two - stage theory. This is based on evidence that pre-eclamptic placentas demonstrate altered remodelling and invasion into the uterine endometrium and myometriu

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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

Mells, George Frank Gannaway. "Investigation of the genetic basis of primary biliary cirrhosis : the PBC genetics study." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648610.

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11

Sjöstrand, Christina. "Clinical and genetic aspects on cluster headache /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-363-9/.

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12

Grandinson, Katja. "Genetic aspects of maternal ability in sows /." Uppsala : Dept. of Animal Breeding and Genetics, Swedish Univ. of Agricultural Sciences, 2003. http://epsilon.slu.se/a390.pdf.

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13

Fransén, Karin. "Molecular genetic aspects of colorectal cancer development /." Linköping : Univ, 2005. http://www.bibl.liu.se/liupubl/disp/disp2005/med878s.pdf.

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14

Wierzbicki, Anthony S. "Refsum's disease : clinical, biochemical and genetic aspects." Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.413972.

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15

Steggles, Naomi. "Psychological aspects of genetic testing for cancer." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271020.

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16

Dornan, Susan. "Aspects of genetic instability in Lactococcus lactis." Thesis, Queen's University Belfast, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.334525.

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17

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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18

McCaskie, Pamela Ann. "Multiple-imputation approaches to haplotypic analysis of population-based data with applications to cardiovascular disease." University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0160.

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[Truncated abstract] This thesis investigates novel methods for the genetic association analysis of haplotype data in samples of unrelated individuals, and applies these methods to the analysis of coronary heart disease and related phenotypes. Determining the inheritance pattern of genetic variants in studies of unrelated individuals can be problematic because family members of the studied individuals are often not available. For the analysis of individual genetic loci, no problem arises because the unit of interest is the observed genotype. When the unit of interest is the linear combination

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19

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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20

Selemani, George Paul. "Genetic diversity and population structure of plasmodium falciparum from four epidemiological locations in Malawi." Thesis, Nelson Mandela Metropolitan University, 2014. http://hdl.handle.net/10948/d1021026.

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In malaria-endemic regions, Plasmodium falciparum (P. falciparum) infection is characterized by extensive genetic/antigenic diversity. Describing this diversity provides important information about the local molecular epidemiology of infecting P. falciparum parasites. Intriguingly, one of the major obstacles to the development of an effective malaria vaccine has been the genetic polymorphisms exhibited by P. falciparum genes encoding targets of human immune system. This situation has necessitated the development of polyvalent vaccines with wide antigenic coverage that would increase the likeli

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21

Lo, Yee-nga, and 盧懿雅. "Effect of t(11;14)(p13;q32) translocation on the expression of PDHX, the telomeric gene on chromosome 11p13, in mature B-cell malignancies." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46632505.

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22

Wright, C. M. "The prognostic significance of microsatellite instability in sporadic stage C colorectal cancer." Thesis, The University of Sydney, 2008. https://hdl.handle.net/2123/28955.

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Identification and understanding of the molecular events involved in colorectal cancer (CRC) pathogenesis should lead to better comprehension of the disease process, hopefully leading to better prognostic stratification, and as a result more targeted treatment regimens and improved patient outcomes. A sub group of sporadic CRC exhibit microsatellite instability (MSI). MSI is seen when the fidelity of DNA replication is impaired. Cancers may be categorized as MSI-high (MSI-H), MSI-low (MSI-L), or microsatellite stable (MSS), according to the degree of MSI exhibited. This research proj

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23

Guo, Youling, and 郭友玲. "Genetic and genomic mapping of common diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50533861.

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Genome-wide mapping of susceptibility genes was conducted in two complex disorders of hypertension and epilepsy, allowing the dissection of the genetic architecture of these common diseases and related quantitative traits. The study performed comprehensive genetic analyses in a genome-wide scale, using different structure of data – sib-pairs and case-control samples. To identify genes influencing hypertension and blood pressure, a combined linkage and association study was conducted using over half a million SNPs genotyped in 328 siblings. Regions of significant linkage were identified fo

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24

Tai, Lai-shan, and 戴麗珊. "Molecular genetic characterizations of human non-small cell lung cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375315.

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25

李耀華 and Yiu-wah Lee. "Molecular genetic analysis of the polyol pathway in diabetic and galactosemic cataracts." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1995. http://hub.hku.hk/bib/B31234276.

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26

Edström, Elder Elisabeth. "Pheochromocytoma and abdominal paraganglioma : clinical and genetic aspects /." Stockholm : [Karolinska institutets bibl.], 2002. http://diss.kib.ki.se/2002/91-7349-116-0/.

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27

Välimäki, Stiina. "Growth of parathyroid glands : genetic and functional aspects /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-704-5.

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28

Alimov, Andrei. "Molecular genetic aspects of renal cell carcinoma development /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-559-X/.

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29

Masienė, Ramunė. "Genetic and physiological aspects of flax morphogenesis induction." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2013~D_20140123_134439-50527.

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Research objective. Investigation of consistent patterns of the induction of flax morphogenesis process, assessment of genetic and physiological aspects of this process and optimization methodologies. Proposition: 1. MOrphogenesis capacity of flax isolated explants depends on a genotype only, but on a composition of a medium and the cultivar type (fibre flax or linseed)also. 2. Cells of different organs of the same genotype have different morphogenic capacity. 3. Combining hormonal ratio with the affect on explats by exogenic factors enables targeted control of the morphogenesis process in vit

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30

Standen, Graeme N. "Some aspects of genetic recombination in Drosophila melanogaster." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282210.

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31

Ratip, Siret. "Clinical, genetic and psychosocial aspects of the thalassaemias." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338876.

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32

Knight, A. I. "Genetic aspects of an alkane degrading Acinetobacter sp." Thesis, Cranfield University, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.376214.

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33

Stanescu, H. C. "Clinical, genetic and molecular aspects of membranous nephropathy." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1318132/.

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Membranous Nephropathy (MN) is one of the leading causes of end-stage renal disease (ESRD). MN is an autoimmune disease in which autoantibodies target antigens at the level of the glomerular basement membrane. The nature of these antibodies and the reason why they develop are not fully understood. One of the strategies towards a better understanding of the disorder is genetic analysis, of which two approaches have been attempted: linkage mapping, based on a family suggestive for X-linked transmission of the MN trait; and whole genome association mapping, based on three case-control cohorts. Th

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34

Deshmukh, Harshal. "Genetic epidemiology studies of aspects of diabetic complications." Thesis, University of Dundee, 2014. https://discovery.dundee.ac.uk/en/studentTheses/bdbeee0f-7507-411f-914f-95a889afa6d0.

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Introduction Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease (ESRD), present in approximately 25%-40% of patients with long-standing diabetes and conferring additional risk of cardiovascular disease and mortality. Variations in the clinical presentations of DKD, heritability estimates from family-based studies and, more recently, the results from Genome-wide Association Studies (GWAS) demonstrate a heritable component of DKD. However, as is the case with the most of complex disorders, identifying causal genetic variants contributing to DKD has proven difficult. An

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35

Rask-Andersen, Mathias. "Obesity Genetics : Functional Aspects of Four Genetic Loci Associated with Obesity and Body Mass." Doctoral thesis, Uppsala universitet, Funktionell farmakologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-204449.

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Obesity is a complex disorder which has reached epidemic proportions in many parts of the world. Twin studies have demonstrated a high heritability for obesity. The subsequent appli-cation of genome wide association studies (GWAS) in the last decade have identified at least 32 genetic loci associated with body mass and obesity. Despite these great advances, these loci are almost exclusively completely naïve in a functional context. Genetic variations within the gene encoding the fat mass and obesity associated gene (FTO) are the strongest and most consistently observed genetic variants associa

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36

Hu, Xiaotong, and 胡曉彤. "Novel IGH translocations in gastric non-Hodgkin's B-cell lymphoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B38688098.

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37

Tong, Tin-wing, and 唐天穎. "Investigation of transcript expression of PRKAR2A, DUSP1, STMN2 and MAPT genes in nasopharyngeal carcinoma, ovarian cancer and benignovarian tumor." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46632700.

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38

Mohammed, Javid P. "Isolation of Tripsacum dactyloides genes using putative apomixis genes from Pennisetum ciliare." Virtual Press, 2008. http://liblink.bsu.edu/uhtbin/catkey/1409586.

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In the present study, DNA sequences associated with an apomixis gene inPennisetum ciliare were isolated from a distantly related grass species, Tripsacum dactyloides. Primers were developed for two bioinformatics-identified candidate genes (Pca2l and Pca24) for apomixis in Pennisetum ciliare. Homologous gene sequences were successfully isolated from both diploid (2n=36) and tetraploid (4n=72) Tripsacum using the primers and polymerase chain reaction (PCR) amplification. Bioinformatics analysis of the purified, cloned and sequenced PCR products revealed that the isolated homolog of the Pca2l ge

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39

Brown, Gerald Francis. "Novel aspects of grass carp GHR gene regulation." Thesis, Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B41897080.

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40

Cheung, Chin-ling, and 張展寧. "Genetic analysis of nasopharyngeal cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44659866.

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41

Tang, Sze-man, and 鄧詩敏. "Genetic dissection of Hirschsprung's disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B44037922.

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42

Cheng, Guo, and 程果. "Genetic study on biliary atresia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/196442.

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Biliary atresia (BA) is a rare and severe cholestatic disease in neonates characterized by an idiopathic inflammatory process affecting both intra- and extra-hepatic bile ducts, causing cholestasis and ultimately leading to obliteration of the biliary tract. Through a previous genome-wide-association-study (GWAS) on Han Chinese, we discovered association of the 10q24.2 region encompassing ADD3 and XPNPEP1 gene. But disease pathogenesis and genetic architecture of BA is still obscure. We mapped the 10q24.2 association locus with 107 single nucleotide polymorphisms (SNPs) on 339 Han Chinese pat

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43

Xue, Fan, and 薛凡. "Identification of SNP markers on 1p36 and analysis of the association of EPB41 with mandibular prognathism." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B45824514.

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44

Wong, Hoi-man Emily, and 黃凱敏. "Genome-wide association analyses on complex diseases: from single-nucleotide polymorphism to copy numbervariation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number

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45

Cookson, William Osmond Charles Michael. "The genetics of atopy and atopic asthma." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.670273.

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46

Meijer, Inge A. "Genetic analysis of the hereditary spastic paraplegias." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=102811.

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The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterized by progressive lower limb spasticity. This disease, with a prevalence ranging from 1 to 20 in 100,000 individuals, is currently untreatable. The neuropathological hallmark is axonal degeneration of motor neurons in the corticospinal tract. However, the mechanisms of pathogenesis underlying this neurodegeneration remain poorly understood. Over the last decade, genetic studies of HSP have identified 33 loci including 14 genes. The main objective of this dissertation was to identify and character

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47

Charlier, Johan. "Monitoring gene level biodiversity - aspects and considerations in the context of conservation." Doctoral thesis, Stockholms universitet, Zoologiska institutionen, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-62796.

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The objectives of this thesis relate to questions needed to be addressed in the context of genetic monitoring for implementing the Convention on Biological Diversity for the gene level. Genetic monitoring is quantifying temporal changes in population genetic metrics. Specific goals of this thesis include i) synthesizing existing information relevant to genetic monitoring of Swedish species, ii) providing a genetic baseline for the Swedish moose, iii) evaluating the relative performance of nuclear versus organelle genetic markers for detecting population divergence, iv) actually monitoring the

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48

譚麗華 and Lai-wa Tam. "Genetics and development of the oral apparatus in 'paramecium tetraurelia'." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1985. http://hub.hku.hk/bib/B31207431.

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周妙芬 and Miu-fun Chau. "The role of the micronucleus in the development of the oral apparatus of paramecium." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1987. http://hub.hku.hk/bib/B31208101.

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Lai, Yau-lin Caroline, and 黎幼蓮. "Genotyping of gestational trophoblastic disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hdl.handle.net/10722/209581.

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