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Dissertations / Theses on the topic 'Dominantlik'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

Lopes-Cendes, Iscia T. "Clinical and genetic heterogeneity in dominantly inherited spinocerebellar ataxias." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0006/MQ29747.pdf.

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2

Lopes-Cendes, Iscia. "Clinical and genetic heterogeneity in dominantly inherited spinocerebellar ataxias." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=27372.

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The autosomal dominant spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of neurodegenerative diseases. Since the first description by Pierre Marie in 1893, the classification has been controversial. This is mainly due to the variety of symptoms observed and the inter- and intrafamilial variability in age of onset, clinical features, neuropathological and biochemical findings. Up to the beginning of 1993, two loci had been identified: one on the short arm of chromosome 6 and more recently a second locus assigned to the long arm of chromosome 12 in a large Cuban family. These

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3

Ishida, Saeko. "Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures." Kyoto University, 2012. http://hdl.handle.net/2433/157442.

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4

Abou, Sleiman Patrick Martin. "Development of pre-implantation genetic diagnosis for dominantly inherited cancer predisposition syndromes." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392335.

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5

Antecol, Michael Hal. "Biochemical and biological characterization of normal skin fibroblasts from individuals predisposed to dominantly inherited cancers." Thesis, McGill University, 1985. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=74010.

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6

Chilvers, Rebecca Joy. "A story without words : investigation of a dominantly inherited verbal memory disorder in a large family." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/16756/.

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To date, there have almost no examples of families where a specific cognitive deficit is inherited with the preservation of closely allied cognitive systems. This thesis describes a series of investigations to define and characterise the phenotype of a large family (the JR family) with an apparently dominantly inherited disorder of verbal memory spanning four living generations. Initial neuropsychological assessment of affected family members revealed a pattern of preserved intelligence with superior nonverbal to verbal IQ. Impaired verbal knowledge, particularly vocabulary was seen. Verbal re

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7

Kusakabe, Jiro. "Complement 5 inhibition ameliorates hepatic ischemia/reperfusion injury in mice, dominantly via the C5a-mediated cascade." Kyoto University, 2020. http://hdl.handle.net/2433/254516.

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8

Men, Clara. "Sequence-Specific Suppression of Alleles Causing Dominantly Inherited Retinal Degeneration Using the RNA-Guided Nuclease Cas9." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:27007731.

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Background: Dominant mutations account for a substantial proportion of inherited retinal degenerations (IRDs) through haploinsufficiency or gain-of-function (GOF) effects. This work explores a potential strategy to treat diseases caused by dominant GOF mutations by specifically suppressing the function of the mutant allele at the genetic level using the CRISPR/Cas9 system. After taking into account the likelihood of allele pathogenicity, we identified six targets suitable for this form of genome editing therapy, including mutations in the RHO, BEST1, IMPDH1, SNRNP200, PRPH2, and PRPF8 genes.

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9

Schmitt, Andreas [Verfasser], Michael [Akademischer Betreuer] Schäfer, and Sebastian [Akademischer Betreuer] Schöps. "Numerical Investigation of Parallel-in-Time Methods for Dominantly Hyperbolic Equations / Andreas Schmitt ; Michael Schäfer, Sebastian Schöps." Darmstadt : Universitäts- und Landesbibliothek Darmstadt, 2018. http://d-nb.info/1177241625/34.

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10

Serpente, M. "MALATTIA DI ALZHEIMER E DEGENERAZIONE LOBARE FRONTOTEMPORALE: RICERCA DI MUTAZIONI AUTOSOMICHE DOMINANTI E ANALISI GENETICA E FUNZIONALE DI GENI CANDIDATI." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217469.

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This PhD study is intended to perform a genetic screening on a population of AD and FTLD patients in order to identify pathogenetic causal mutations (PSEN1, PSEN2 and APP for AD; MAPT, GRN and the GGGGCC repeat expansion one the C9orf72 gene for FTLD) and to investigate the role of several candidate genes (GRN,TMEM106b and OLR1) considered to be risk factors for the two disease. Eighteen patients were carriers of pathogenetic causal mutations: 1 carrier of Ala260Val (g.49964C>T) situated in exon 8 of PSEN1,16 carriers of GRN gene mutations and 1 carrier of a new variant, Gly304Ser (g.123789G

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11

Kawamura, Takahide. "Ultrastructural localization of dominantly increased fibronectin in the markedly thickend glomerular basement membrane in selectively mated murine high IgA strain(HIGA mice)." Kyoto University, 2001. http://hdl.handle.net/2433/150201.

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12

Riabčikovas, Tomas. "Pušies ir eglės kirtaviečių paklotės nariuotakojų kompleksų sukcesijos skirtingo ūkininkavimo sąlygomis." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2010. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2010~D_20100621_113948-48296.

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Magistro darbe tiriama pušies ir eglės kirtaviečių paklotės nariuotakojų kompleksų sukcesijos skirtingo ūkininkavimo sąlygomis Darbo objektas - Dubravos eksperimentinėje mokomojoje miškų urėdijoje (EMMU), Vaišvydavos g-joje 2006 m įrengtų 8 tyrimo barelių nariuotakojų kompleksai. Darbo metodas – statistinis nariuotakojų kompleksų tyrimas naudojant Barberio žemės gaudykles. Darbo rezultatai – Atliekant tyrimus nustatyta, kad Iš viso rasta 15 skirtingų nariuotakojų būrių ir klasių atstovų: du iš jų tinklasparniai (Neuroptera) ir blusos (Siphonaptera), rasti tik eglės kirtavietėje, be to blusos

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13

VALLO, LAURA. "Sistemi integrati di analisi molecolare per la diagnosi e lo studio delle malattie da triplette instabili." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2004. http://hdl.handle.net/2108/208532.

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L’instabilità genetica di repeat nucleotidici è una forma, importante e unica, di mutazione associata a più di 40 patologie neurologiche, neurodegenerative e neuromuscolari. Tali malattie sono classificate in tre differenti gruppi sulla base del meccanismo patogenetico che porta all’insorgere della malattia stessa: 1) perdita di funzione del gene; 2) funzione alterata della proteina; 3) effetto tossico dell’mRNA. Durante il periodo di dottorato, ho studiato in modo più approfondito un modello-malattia per ciascuna classe: 1) Sindrome dell’X-Fragile, causata da un’espansione [CGG] nel 5’ U

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14

ALILI, IMER. "L’insegnamento della lingua, letteratura e cultura italiana all’estero: l’esperienza nella Repubblica di Macedonia." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2015. http://hdl.handle.net/2108/189882.

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Teaching italian language, literature and culture abroad: the experience in the Republic of Macedonia (FYROM) by Imer ALILI. // In this dissertation we wanted to summarize, briefly, an empirical and analytical study on the current state of general education and the teaching tools available to teachers of all levels of teaching, to move us forward in the direction of a possible revision and rebuilding the educational system, like the humanistic values of which the various disciplines should be impregnated to comprehend the current conditions of reality evolved in this digital age, now on a glo

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15

DELLI, POGGI STEFANO. "DINAMICHE DOMINANTI - LA PRIMA CONGETTURA." Doctoral thesis, 2012. http://hdl.handle.net/11573/918567.

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16

DELLI, POGGI STEFANO. "Dinamiche dominanti dell’agire e dell’agire sociale per una teoria dei valori." Doctoral thesis, 2012. http://hdl.handle.net/11573/917667.

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Dinamiche dominanti dell’agire e dell’agire sociale. Per una Teoria dei valori. Analisi e sintesi dell’agire e dell’agire sociale con l’ipotesi fondamentale della scelta razionale ed economico-conveniente orientata da valori. Il titolo e il sottotitolo di questo lavoro indicano già specificamente il suo contenuto ove, in estrema sintesi, si ricerca il come piuttosto che il perché dell’agire, sia questo individuale, sociale o collettivo (un agire per valore, cioè orientato da valori). Il lavoro si compone di due volumi: il primo di Tesi, Sintesi e Risultati (Volume 1) e il secondo di Ricer

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17

DELLI, POGGI STEFANO. "DINAMICHE DOMINANTI DELL'AGIRE E DELL'AGIRE SOCIALE - POSCRITTO 2012." Doctoral thesis, 2012. http://hdl.handle.net/11573/918389.

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IL POSCRITTO SEGUE I VOLUMI DI TESI, ANALISI E SINTESI DELLE DINAMICHE DOMINANTI DELL'AGIRE E DELL'AGIRE SOCIALE. SI TRATTA DI UNA PRIMA FORMA SINOTTICA DELLA TEORIA DEI VALORI (TdV) NONCHE' DI ALCUNI ASPETTI DEL SUO SVILUPPO E APPLICAZIONE.

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18

Harmer, Lawrence Peter. "Black pupils' experience of integration in a dominantly white school." Thesis, 2014. http://hdl.handle.net/10210/9435.

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19

Schmitt, Andreas. "Numerical Investigation of Parallel-in-Time Methods for Dominantly Hyperbolic Equations." Phd thesis, 2018. https://tuprints.ulb.tu-darmstadt.de/8328/1/20181222_Schmitt_NumericalInvestigationOfParallelInTimeMethods.pdf.

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Simulations aid in many scientific and industrial applications. A general ambition for these simulations is to keep the time-to-solution as small as possible while maintaining a desired accuracy. Besides with high computational power, this can be achieved by employing multiple processing units with parallelization. Today’s state of the art is the spatial parallelization which provides a very good parallel efficiency. However, such a parallelization introduces communication and synchronization overheads leading to a maximal number of processing units which can be used efficiently. Applying a

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20

Harmer, Lawrence Peter. "The mastering of life skills by disadvantaged black pupils in a dominantly white school." Thesis, 2014. http://hdl.handle.net/10210/11563.

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D. Ed. (Multiculturalism and Education)<br>This research will look at specific problem areas specifically pertaining to life skills which hamper the disadvantaged pupil in his development in the formal and non-formal educational sector of the school. with these identified factors, I aim to develop an acceptable information base for staff who have no in-service training as to how to assist, handle and participate with the sudden influx of disadvantaged pupils. This study is therefore aimed at gaining information to assist the teacher as well as the pupil. Reasons for the non-performance and thu

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21

Tsai, Ching-Chi, and 蔡靜琪. "From Study a Rice Mutant Reveal a Receptor-like Kinase Gene Dominantly Involved in Control of Leaf Color." Thesis, 2004. http://ndltd.ncl.edu.tw/handle/19013959888627679738.

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碩士<br>國立中興大學<br>生物科技學研究所<br>92<br>SA0420, a rice mutant derived from cultivar TNG67, exhibits multiple distinctive traits including a taro fragrance in the mature leaf and grain, a dwarf appearance of the whole plant, leaf-tip yellowing, early maturity and low fertility, etc. To characterize genes involving the above phenotypes, we aimed to isolate both up- and down-regulated genes in SA0420. Subtracted cDNA libraries were constructed and colony arrays were screened by hybridizations. The differential expressions of two clones, SA1 and SA2, were confirmed by gene-specific RT-PCR. Both sequence

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22

Murdoch-Kinch, Carol Anne. "Cephalometric analysis of families with dominantly inherited Crouzon syndrome a genotype/phenotype correlation study to establish and redefine the concept of incomplete penetrance /." 1996. http://catalog.hathitrust.org/api/volumes/oclc/48072875.html.

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23

GIOVANNINI, ALESSANDRO. "La Distinzione. Un saggio sul dominio." Doctoral thesis, 2018. http://hdl.handle.net/11573/1081624.

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Il presente lavoro ha avuto come obiettivo l'individuazione, la separazione e la considerazione di alcuni dei singoli temi analizzati nel libro di Pierre Bourdieu La Distinzione. Nel primo capitolo, oltre a presentare e discutere alcuni concetti base – come ad esempio spazio sociale e campo, capitale e habitus, etc. – indispensabili alla lettura e alla comprensione di un autore complesso com'è senz'altro Pierre Bourdieu, si cercano di puntualizzare quegli assunti sui quali il sociologo francese costruirà la sua teoria sociale. Avendo inteso l'intera opera come un'analisi dei rapporti di forza

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