Relevant bibliographies by topics / Digenism

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Digenism'

Author: Grafiati
Published: 7 September 2024

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Journal articles on the topic "Digenism"

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Sáenz, Amets, and Adolfo López de Munain. "Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, no. 2 (2016): e7-e7. http://dx.doi.org/10.1093/brain/aww281.

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Vissing, John, and Morten Duno. "Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, no. 2 (2016): e8-e8. http://dx.doi.org/10.1093/brain/aww283.

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Behin, A., P. Laforêt, O. Dubourg, et al. "G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy." Neuromuscular Disorders 17, no. 9-10 (2007): 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.

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Caetano, Carollne, Manon Ricquebourg, Philippe Orcel, et al. "Early onset idiopathic osteoporosis: digenism of wnt signaling pathway." Bone Reports 13 (October 2020): 100354. http://dx.doi.org/10.1016/j.bonr.2020.100354.

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Beigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, et al. "Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease." Experimental Eye Research 207 (June 2021): 108533. http://dx.doi.org/10.1016/j.exer.2021.108533.

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Moraine, Claude, Frédérique Bonnet-Brilhault, Frédéric Laumonnier, and Marie Gomot. "Could autism with mental retardation result from digenism and frequent de novo mutations?" World Journal of Biological Psychiatry 10, no. 4-3 (2009): 1030–36. http://dx.doi.org/10.1080/15622970802627455.

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Bertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou, and Gisèle Bonne. "Clinical and genetic heterogeneity in laminopathies." Biochemical Society Transactions 39, no. 6 (2011): 1687–92. http://dx.doi.org/10.1042/bst20110670.

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Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heterogeneity, with 408 different mutations being reported to date. Whereas a few hotspot mutations emerge for some types of laminopathies, relationships between genotypes and phenotypes remain poor for laminopa
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Chapon, F., C. Gartioux, C. Ledeuil, et al. "G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?" Neuromuscular Disorders 18, no. 9-10 (2008): 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.

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Lecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, et al. "Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas." European Journal of Endocrinology 174, no. 4 (2016): 523–30. http://dx.doi.org/10.1530/eje-15-1044.

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ContextRecently, germline and somaticGPR101p.(E308D) mutation was found in patients with isolated acromegaly. It is not known whetherGPR101point mutations are associated with other histological types of pituitary adenoma.ObjectiveWe sought germlineGPR101mutations in patients with sporadic pituitary adenomas, and compared the phenotypes ofGPR101mutation carriers andAIPmutation carriers.DesignAn observational cohort study performed between 2007 and 2014 in a single referral center.ParticipantsThis prospective study involved 766 unselected patients (413 women) with sporadic pituitary adenomas of
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Hendrickx, B. "‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held." Literator 14, no. 1 (1993): 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.

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The Byzantine akritic poem, "The Death of Digenis", which manifests all the characteristics of the Byzantine Neo-Hellenic tragoudi, is a good exemplum of an epic song, where mystification (in its anthropological sense) is used to idealize the hero. Historically the akritic songs (9th - 13th cent. A.D.) refer to the ongoing war on Byzantium’s frontiers between the Christian defenders of the empire and the Moslem invaders. The poem's structure, its historical-epic elements and especially its symbolism are examined in this article. It thus becomes clear that the unknown poet juxtaposes present, p
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Dissertations / Theses on the topic "Digenism"

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Ogloblinsky, Marie-Sophie. "Statistical strategies leveraging population data to help with the diagnosis of rare diseases." Electronic Thesis or Diss., Brest, 2024. http://www.theses.fr/2024BRES0039.

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La forte hétérogénéité génétique et les modes de transmission complexes des maladies rares posent le défi d'identifier le variant causal si un seul patient le porte, en utilisant des données de séquençage et des méthodes d'analyse standard. Pour aborder ce problème, la méthode PSAP utilise des distributions nulles par gène de scores de pathogénicité CADD pour évaluer la probabilité d'observer un génotype donné dans la population générale. L'objectif de ce travail était de répondre au manque de diagnostic des maladies rares grâce à des méthodes statistiques. Nous proposons PSAP-genomic-regions,
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Moosburger, Théo de Borba. "Tradução comentada dos versos 1-609 do épico bizantino Vasileios Digenis Akritis." Florianópolis, SC, 2008. http://repositorio.ufsc.br/xmlui/handle/123456789/91651.

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Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expresão. Programa de Pós-graduação em Estudos da Tradução<br>Made available in DSpace on 2012-10-24T01:10:34Z (GMT). No. of bitstreams: 1 258711.pdf: 10030420 bytes, checksum: 61c63f046d358c171ccb562a16c5cb40 (MD5)<br>A presente dissertação de mestrado consiste numa tradução comentada da primeira parte do épico grego medieval Digenis Akritis na versão de Escorial (versos 1-609), texto anônimo. Parte de um estudo da obra e seu contexto histórico e literário. Com base em formulações teóricas acerca da tradu
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Grguric, Benjamin Alxander. "Polymorphism and exsolution in the bornite-digenite solid solution series." Thesis, University of Cambridge, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625036.

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Gazzo, Andrea. "Beyond monogenic diseases: a first collection and analysis of digenic diseases." Doctoral thesis, Universite Libre de Bruxelles, 2018. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/272617.

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In the next generation sequencing era many bioinformatics tools have been developed for assisting scientists in their studies on the molecular basis of genetic diseases, often with the aim of identifying the pathogenic variants. As a consequence, in the last decades more than one hundred new disease-gene associations have been discovered. Nevertheless, the genetic basis of many genetic diseases yet remains undisclosed. It has been shown that many diseases considered as monogenic with an imperfect genotype-phenotype correlation or incomplete penetrance are, on the contrary, caused or modulated
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Trusso, Maria Allegra. "THE GENETICS OF BIPOLAR DISORDER AND THE ROLE OF HETEROZYGOSITY FOR NEURONAL CEROID LIPOFUSCINOSIS." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1214195.

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Introduction. Bipolar Disorder (BD) is an heritable chronic mental disorder causing psychosocial impairment, affecting patients with depressive/manic episodes. The familial transmission of BD does not follow any of the simple Mendelian patterns of inheritance, demonstrating the involvement of multiple susceptibility genes. Materials and Method. Whole Exome Sequencing (WES) was performed in eight subjects of a large family counting twelve BD affected people. We selected variants in common between the affected subjects, once including and once excluding a “borderline” subject with mode
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Livaniou, Krystallia. "Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes." Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.

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Les chansons populaires grecques sont imprégnées d’une profonde religiosité qui apparaît à la fois comme cadre et comme vecteur d’action. Le poète populaire entretient une relation multidimensionnelle avec le Dieu de la Bible et de l’Ancien Testament et fait des saints et des anges des personnages actifs et récurrents dans les textes ; ils évoluent parallèlement avec les héros et leurs destinées s’entrecroisent. Charos est une figure mythique qui joue un rôle fondamental dans l’ensemble des chansons. Personnage mythologiquement et symboliquement sophistiqué, Charos constitue le pilier des miro
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Jereza, Noel Abique. "Investigations on potential digenic HAMP (hepcidin) and HFE haemochromatosis gene mutations in the development of iron overload in Irish patients with dilated cardiomyopathy." Thesis, University of the West of England, Bristol, 2016. http://eprints.uwe.ac.uk/25518/.

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Iron overload cardiomyopathy (IOC) has been recently described as a dilated cardiomyopathy, characterized by left ventricular (LV) remodelling with chamber dilatation and reduced LV ejection fraction (LVEF). However, primary haemochromatosis, a genetically determined condition leading to iron overload, is classically categorized as an infiltrative cause of cardiomyopathy. Moreover, secondary haemochromatosis may lead to severe diastolic LV dysfunction in the early stages of the disease, before LVEF is affected. In this study, we describe the forms, pathophysiology, and genotypic expressions of
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JAVANSHIR, ARASH. "Les trematodes digenes parasites de la coque cerastoderma edule (mollusque bivalve) dans le bassin d'arcachon : effets sur la dynamique des populations et la physiologie respiratoire de l'hote." Paris 6, 1999. http://www.theses.fr/1999PA066258.

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Parmi les mecanismes susceptibles d'influer la dynamique des populations d'invertebres marins, le facteur parasitisme a ete peu pris en compte jusqu'a present. Dans ce travail, nous nous sommes interesses a l'effet des trematodes digenes sur la dynamique des populations et la physiologie respiratoire d'un mollusque bivalve, la coque cerastoderma edule, dans le bassin d'arcachon. Les populations de coques du bassin sont sujettes a une importante variabilite spatio-temporelle du recrutement et de leur structure demographique. En outre, les populations etudiees en cinq sites montrent une variabil
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Famin, Maria Victoria. "Épistémologie d’une proposition théorique sur la littérature. Édouard Glissant à l’épreuve des auteurs francophones et hispanophones des Amériques : Alejo Carpentier, Patrick Chamoiseau et Augusto Roa Bastos." Thesis, Paris 4, 2013. http://www.theses.fr/2013PA040232.

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Dans une période de ralentissement de la production théorique littéraire en France, la Poétique de la Relation d’Édouard Glissant apparaît comme une proposition novatrice qui renouvelle la conception de la littérature. Elle est le résultat d’une pensée qui suppose une prise de position épistémologique majeure, car elle produit dans le champ de la théorie littéraire un nouveau type de discours. Nous l’appellerons discours poético-théorique du littéraire car il est le reflet de la place que la poésie prend dans la proposition de l’auteur comme un moyen privilégié pour une réflexion sur le littér
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Balciuniene, Jorune. "Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-4917-4/.

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Books on the topic "Digenism"

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James, Kelly, and Lentarē Tina, eds. Pinakas symphrazomenōn tou Digenē Akritē, syntaxē E =: Concordance to Digenes Akrites, version E. Panepistēmiakes Ekdoseis Krētēs, 1995.

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Paolo, Odorico, ed. Digenis Akritas: Poema anonimo bizantino. Giunti, 1995.

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Leōnidou, Leōnidas Ph. Geōrgios Grivas Digenēs: Viographia. 2nd ed. Ekdoseis K. Epiphaniou, 2009.

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Anna, Spitzbarth, ed. Digenes Akritas: Das byzantinische Epos. H.J. Schweizer, 1988.

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Fenik, Bernard. Digenis: Epic and popular style in the Escorial version. Crete University Press, 1991.

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Sikelianos, Angelos. Vita lirica: Poesie scelte e scene della tragedia Digenis. Istituto siciliano di studi bizantini e neoellenici, 1987.

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Mirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. Voies itinérantes, 2008.

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Mirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. Voies itinérantes, 2008.

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Alexiou, Stylianos. Vasileios Digenēs Akritēs. Hermēs, 1990.

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Kalokyrē, Helenē. Vasileios Digenēs Akritas. 2nd ed. Kedros, 1993.

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Book chapters on the topic "Digenism"

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Trapp, Erich. "Digenēs Akritēs." In Kindlers Literatur Lexikon (KLL). J.B. Metzler, 2020. http://dx.doi.org/10.1007/978-3-476-05728-0_7808-1.

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Castroviejo, Ricardo. "Digenite (dg/neodigenite)." In A Practical Guide to Ore Microscopy—Volume 1. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-12654-3_43.

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Goldwyn, Adam J. "Zoomorphic and Anthomorphic Metaphors in the “Proto-Romance” Digenis Akritis." In Byzantine Ecocriticism. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-69203-6_2.

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Chen, A. H., K. Fukushima, W. T. McGuirt, and R. J. H. Smith. "DFNB15: Autosomal Recessive Non-Syndromic Hearing Loss Gene - Chromosome 3q, 19p or Digenic Recessive Inheritance?" In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059089.

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"Digenis Akritis: Description of Digenis’ Palace." In Sources for Byzantine Art History. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.055.

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"digenite." In Dictionary Geotechnical Engineering/Wörterbuch GeoTechnik. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-41714-6_41961.

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"Digenis Akritis: Description of the Υoung Digenis." In Sources for Byzantine Art History. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.095.

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"digenite, n." In Oxford English Dictionary, 3rd ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/9011881545.

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"Digenic Diseases." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4460.

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"Digenes Akrites." In Christian-Muslim Relations. A Bibliographical History. Volume 3 (1050-1200). BRILL, 2011. http://dx.doi.org/10.1163/ej.9789004195158.i-804.261.

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Conference papers on the topic "Digenism"

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Brodbeck, Maurice, Sean Harrison McClenaghan, Balz Samuel Kamber, and Patrick Redmond. "Redistribution of Rare Metal(loids) during Digenite Exsolution in Porphyry Copper Ores." In Goldschmidt2020. Geochemical Society, 2020. http://dx.doi.org/10.46427/gold2020.264.

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Birch, David G., Gabriel H. Travis, Kirsten G. Locke, and Donald C. Hood. "Rod Ergs in Mice and Humans with Putative Null Mutations in the RDS Gene." In Vision Science and its Applications. Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.

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Mutations causing autosomal dominant retinitis pigmentosa (RP) have been identified in RDS, the human homologue of the gene that was first identified and isolated as the cause of mouse "retinal degeneration slow" or rds (1, 2). The rds gene encodes rds/peripherin, an integral membrane glycoprotein located in outer segment disks (1, 3, 4). More than 15 distinct disease-causing mutations in the RDS gene have been reported (5). The clinical phenotypes include adRP, dominant retinitis punctata albescens, dominant butterfly shaped pigment dystrophy of the fovea and autosomal dominant macular degene
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Reports on the topic "Digenism"

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Juvik, John A., Avri Bar Zur, and Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, 1993. http://dx.doi.org/10.32747/1993.7568764.bard.

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Recently, the vegetable corn industry has shifted from the use of traditional cultivars with the sugary1 (su1) endosperm mutation to newer hybrids homozygous for the shrunken2 (sh2) or sugary enhancer1 (se1) genes. With greater kernel sucrose content, these hybrids are preferred by consumers and retain sugar for longer post harvest periods, providing the industry with more time to marker products with superior quality. Commercialization has been hindered, however, by reduced field emergence, and the establishment of stands with heterogeneous uniformity and maturities. This investigation was co
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