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Relevant bibliographies by topics / Phenotypic features / Dissertations / Theses

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Dissertations / Theses on the topic 'Phenotypic features'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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1

Sheth, Viral. "Phenotypic features of the visual system in albinism." Thesis, University of Leicester, 2018. http://hdl.handle.net/2381/42880.

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Purpose: The main aims were to: 1) characterise the morphology of the iris structures and investigate the diagnostic potential of changes in albinism, 2) investigate visual field changes in albinism and 3) to analyse the relationship between refractive error/iris pigmentation and foveal hypoplasia in infantile nystagmus. Methodology: The iris was imaged in 55 individuals with albinism and 45 controls using anterior segment optical coherence tomography (OCT) and segmented using ImageJ software. Visual field assessment using Humphrey field analyser was carried out on 61 individuals with albinism

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2

Alfawaz, Shurog Abdulrahman. "The genotypic and phenotypic features of familial tooth agenesis in consanguineous families." Thesis, Queen Mary, University of London, 2013. http://qmro.qmul.ac.uk/xmlui/handle/123456789/8632.

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An evolution in methods of identifying the causal mutations and candidate genes for Mendelian disorders has occurred recently. Though several studies have reported the causative mutations in non syndromic tooth agenesis, there are only two reports on autosomal recessive nonsyndromic tooth agenesis in consanguineous families. Since the consanguinity rate is high in tribal population of Saudi and Pakistan, this study identified consanguineous families in these populations to investigate the molecular basis of tooth agenesis. This study aimed to study the phenotype of familial tooth agenesis in S

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3

Utzeri, Valerio Joe <1985&gt. "Analysis of Animal Genetic Resources for the Identification of Polymorphisms Associated with Phenotypic Features and Evolutionary Aspects." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/8102/1/Utzeri_ValerioJoe_tesi.pdf.

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Coat colour has been one of the main target of both natural and artificial selection and in particular one of the first of domestication process. This Thesis has been focused on the detection of genetic variability of new variants in coat colour genes in different species, especially those associated with particular coat colour phenotypes and introgression of domesticated alleles in wild populations. The aim of this Thesis was to identify and analyse polymorphisms associated with phenotypic traits that have been selected during the domestication processes and may differentiate breeds or popula

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4

Hendricks, Lesley Jill. "An analysis of the phenotypic features of chromosomes 22q11.1 deletion syndrome at Red Cross War Memorial Children's Hospital." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/29805.

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Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the second most commonly occurring syndrome, Trisomy 21 being the most common. It is the most common microdeletion syndrome. The clinical range of features with which affected individuals present is very broad and includes congenital heart disease (particularly conotruncal malformations), palatal abnormalities, characteristic facial features, and learning difficulties. In total, there are more than 180 different phenotypic features associated with 22qDS. Due to the wide variability of phenotypic fea

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5

Lo, Ching-ha, and 盧靜霞. "Study of B lymphocyte subset phenotypes and clinical features of common variable immunodeficiency patients in Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B42924959.

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6

Lo, Ching-ha. "Study of B lymphocyte subset phenotypes and clinical features of common variable immunodeficiency patients in Hong Kong." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B42924959.

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7

McDonnell, Stephen Martin. "The phenotype of anteromedial gonarthrosis : a study of genetic aetiology, macroscopic, microscopic & molecular features." Thesis, Imperial College London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.542945.

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8

Trimarchi, Michael Paul Trimarchi. "Identification of endometrial cancer methylation features using a combined methylation analysis method." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1461302615.

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9

Carbo, Meix Anna <1994&gt. "In-Depth Analysis Of Metabolic Phenotype By Studying Age- And Sex-Related Features Of Type 2 Diabetes." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2021. http://amsdottorato.unibo.it/9660/1/TESI-ACM-18.2.21.pdf.

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Type 2 diabetes mellitus (T2DM) is an age-related disease characterized by chronic hyperglycaemia mainly explained by insulin resistance and impaired insulin. T2DM is a worldwide increasing disease – in 2013, the International Diabetes Federation estimated that 382 million adults suffered from T2DM and that by 2035 there will be 592 people affected. These worrisome numbers challenge biomedical research at identifying new biomarkers for the diagnosis. The purpose of this study was to analyse and integrate different sources of clinical data with glycomics data in controls, prediabetics and diabe

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10

Clark, Jonathan Darrell. "FUNCTIONAL CONNECTIVITY FOR CONFIGURAL AND FEATURAL FACE PROCESSING IN THE BROAD AUTISM PHENOTYPE." UKnowledge, 2011. http://uknowledge.uky.edu/gradschool_diss/174.

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During normal development, face processing involves a gradual shift from a featurally oriented style to a mature configural style by adolescence. This shift may coincide with increased right hemispheric dominance for faces supporting configural processing. Previous studies suggest that individuals diagnosed with ASD continue to process faces using individual parts and features into adulthood. This continued bias may be due to deficits in configural processing abilities. The current study investigated measures of functional connectivity during featural and configural processing of faces in broa

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11

Veizis, Ilir Elias. "Enhanced ERK1/2 activity a central feature of cystogenesis in ARPKD implications for ion transport phenotype /." Connect to text online, 2005. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1102023062.

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Thesis (Ph. D.)--Case Western Reserve University, 2005.<br>[School of Medicine] Department of Physiology and Biophysics. Includes bibliographical references. Available online via OhioLINK's ETD Center.

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12

ORSINI, ALESSANDRO. "Clinical features, disease evolution, ocular phenotype and electroretinogram abnormalities in Italian Lafora disease patients: a road to precision therapy." Doctoral thesis, Università degli studi di Genova, 2021. http://hdl.handle.net/11567/1046894.

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INTRODUCTION: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration,associated with pathogenic variants in EPM2A/EPM2B, encoding laforin and malin, two glycogen metabolism enzymes. Long-term follow-up data of this rare disease are lacking. So we collect the entire Lafora Disease italian population describing the clinical features and genetic findings. Moreover In order to identify a safe non invasive and rapid biological marker of Lafora disease we examined retina anatomy, FAF, SD, OCT, visual acuity and color vision of a particular su

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13

Lee, Angela. "Type 1 Diabetes with Metabolic Syndrome Features: Exploring this Modern-Day Phenotype and the Effects of High-Intensity Interval Training." Thesis, The University of Sydney, 2020. https://hdl.handle.net/2123/24555.

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Introduction Type 1 diabetes is characterised by insulin deficiency, however the ‘double diabetes’ phenotype of type 1 diabetes with insulin resistance and/or metabolic syndrome is becoming increasingly recognised, especially given rising global obesity rates. The effects of exercise on metabolic health have not been adequately studied in people with type 1 diabetes, and exercise-related hypoglycaemia is a major barrier. Aims This thesis aimed to examine the prevalence of metabolic syndrome in adults with type 1 diabetes, and its association with diabetes complications. The safety and be

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14

Kratsch, Christina [Verfasser], Alice [Akademischer Betreuer] McHardy, Martin [Akademischer Betreuer] Lercher, and Martin [Akademischer Betreuer] Beer. "Computational methods to study phenotype evolution and feature selection techniques for biological data under evolutionary constraints / Christina Kratsch. Gutachter: Martin Lercher ; Martin Beer. Betreuer: Alice McHardy." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2014. http://d-nb.info/1063085128/34.

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15

Kratsch, Christina Verfasser], Alice [Akademischer Betreuer] [McHardy, Martin [Akademischer Betreuer] Lercher, and Martin [Akademischer Betreuer] Beer. "Computational methods to study phenotype evolution and feature selection techniques for biological data under evolutionary constraints / Christina Kratsch. Gutachter: Martin Lercher ; Martin Beer. Betreuer: Alice McHardy." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2014. http://d-nb.info/1063085128/34.

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16

Ferreira, Daniela Filipa Cardoso. "Relevância do painel de diagnóstico fenotípico de Doenças Linfoproliferativas Crónicas de células B na identificação de rasgos fenotípicos displásicos nas linhas a neutrófilo, monocítica e eritroide." Master's thesis, 2017. http://hdl.handle.net/10316/83090.

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Dissertação de Mestrado em Bioquímica apresentada à Faculdade de Ciências e Tecnologia<br>Nas últimas décadas, tem sido cada vez mais reportado na literatura a presença de doenças múltiplas num mesmo indivíduo, nomeadamente a coexistência de mais do que uma Doença Linfoproliferativa Crónica de células B (DLPC-B), a presença simultânea de uma Gamapatia Monoclonal e/ou Mieloma Múltiplo com Síndrome Mielodisplásica (SMD) e, mais recentemente casos diagnosticados com DLPC-B concomitante a SMD. Contudo, relativamente às últimas duas doenças, não se sabe ao certo qual o impacto da presença simultâne

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17

FANELLA, MARTINA. "Neuropsychiatric features and genetic aspects in 22q11.2 deletion syndrome." Doctoral thesis, 2021. http://hdl.handle.net/11573/1546760.

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Introduction. 22q11.2 Deletion Syndrome (22q11.2DS; MIM #192430, MIM #188400) is the most common recurrent microdeletion in humans. The phenotypic spectrum of this syndrome encompasses a heterogeneous range of manifestations. The psychiatric and neurocognitive features have received an increasing attention over the last years and 22q11.2DS is considered as the genetic model of schizophrenia. However, the neurological manifestations are far from being fully clarified. Based on these considerations, in our study we selected an adult population of patients with an established molecular diagnosi

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18

Sarogni, Patrizia. "EGFR activation promotes a hypertrophic phenotype in NAGLU depleted cardiomyoblasts, depicting features of mucopolysaccharidosis IIIB." Tesi di dottorato, 2017. http://www.fedoa.unina.it/12189/1/sarogni_patrizia_30.pdf.

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Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disease due to the deficiency of the enzyme α-N-acetylglucosaminidase (NAGLU) required for heparan sulfate degradation. Since perturbation of lysosomal homeostasis represents an important cause of cardiomyocyte dysfunction in cardiovascular diseases, we generated a model of the MPS IIIB by silencing NAGLU gene expression in H9C2 rat cardiomyoblasts. NAGLU-depleted H9C2 exhibited accumulation of abnormal lysosomes and a hypertrophic phenotype. Through a phospho-receptor tyrosine kinase array, we found the specific activation of the epiderm

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19

Friedrichs, Heidi. "Genetic variants of EPO and EPOR influence cognitive core features of schizophrenia." Doctoral thesis, 2011. http://hdl.handle.net/11858/00-1735-0000-0006-ADF7-2.

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20

(9224231), Dongdong Ma. "Ameliorating Environmental Effects on Hyperspectral Images for Improved Phenotyping in Greenhouse and Field Conditions." Thesis, 2020.

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Hyperspectral imaging has become one of the most popular technologies in plant phenotyping because it can efficiently and accurately predict numerous plant physiological features such as plant biomass, leaf moisture content, and chlorophyll content. Various hyperspectral imaging systems have been deployed in both greenhouse and field phenotyping activities. However, the hyperspectral imaging quality is severely affected by the continuously changing environmental conditions such as cloud cover, temperature and wind speed that induce noise in plant spectral data. Eliminating these environmental

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21

Liu, Jiangang. "MOLECULAR PROFILING IN BREAST CANCER AND TOXICOGENOMICS." 2011. http://hdl.handle.net/1805/2636.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>This dissertation presents a body of research that attempts to tackle the ‘overfitting’ problem for gene signature and biomarker development in two different aspects (mechanistically and computationally). In achievement of a deeper understanding of cancer molecular mechanisms, this study presents new approaches to derive gene signatures for various biological phenotypes, including breast cancer, in the context of well-defined and mechanistically associated biological pathways. We identified the pattern of gene expression in the cell

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