Academic literature on the topic 'Digenism'
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Journal articles on the topic "Digenism"
Sáenz, Amets, and Adolfo López de Munain. "Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, no. 2 (November 5, 2016): e7-e7. http://dx.doi.org/10.1093/brain/aww281.
Full textVissing, John, and Morten Duno. "Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, no. 2 (November 15, 2016): e8-e8. http://dx.doi.org/10.1093/brain/aww283.
Full textBehin, A., P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre, and B. Eymard. "G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy." Neuromuscular Disorders 17, no. 9-10 (October 2007): 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.
Full textCaetano, Carollne, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal, and Corinne Collet. "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.
Full textBeigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso, and Nasrin Ghasemi. "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.
Full textMoraine, 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 (January 2009): 1030–36. http://dx.doi.org/10.1080/15622970802627455.
Full textBertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou, and Gisèle Bonne. "Clinical and genetic heterogeneity in laminopathies." Biochemical Society Transactions 39, no. 6 (November 21, 2011): 1687–92. http://dx.doi.org/10.1042/bst20110670.
Full textChapon, F., C. Gartioux, C. Ledeuil, L. Demay, L. Brinas, D. Herlicoviez, S. Allouche, 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 (October 2008): 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.
Full textLecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon-Mantel, Philippe Chanson, and Peter Kamenický. "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 (January 2, 2016): 523–30. http://dx.doi.org/10.1530/eje-15-1044.
Full textHendrickx, B. "‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held." Literator 14, no. 1 (May 3, 1993): 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.
Full textDissertations / Theses on the topic "Digenism"
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.
Full textHigh genetic heterogeneity and complex modes of inheritance in rare diseases pose the challenge of identifying an n-of-one sequencing data and standard analysis methods. To tackle this issue, the PSAP method uses gene-specific null distributions of CADD pathogenicity scores to assess the probability of observing a given genotype in a healthy population. The goal of this work was to address rare disease lack of diagnosis through statistical strategies. We propose PSAP-genomic-regions an extension of the PSAP method to the non-coding genome, using as testing units predefined regions reflecting functional constraint at the scale of the whole genome.We implemented PSAP-genomic-regions and the initial PSAP-genes in Easy-PSAP a user-friendly and versatile Snakemake workflow, accessible to both researchers and clinicians. When applied to families affected by male infertility, Easy-PSAP allowed the prioritization of relevant candidate variants in known and novel genes. We then focused on digenism, the most simple mode of complex inheritance, which implicates the simultaneous alteration of two genes to develop a disease. We reviewed and benchmarked current methods in the literature to detect digenism and put forward new strategies to improve the diagnostic of this complex mode of inheritance
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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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 tradução literária, fundamentadas principalmente nas teorias de Antoine Berman e Lawrence Venuti, ela propõe uma tradução que possa simultaneamente apresentar a pouco conhecida literatura grega medieval e oferecer uma nova imagem da cultura grega ao público-leitor brasileiro. O texto traduzido constitui capítulo à parte e o original grego é fornecido em apêndice. This master thesis consists of a commented translation of the first part (vv. 1-609) of the anonymous Medieval Greek epic Digenis Akritis, in the Escorial version. First an analysis of the work and its literary and historical context is made. Based upon theoretical formulations concerning literary translation, which is mainly grounded on Antoine Berman's and Lawrence Venuti's theories, it proposes a translation that can both present the little known medieval Greek literature and offer a new image of the Greek culture to Brazilian readers. The translated text constitutes a separate chapter within the work, and the Greek original is given in the appendix.
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.
Full textGazzo, 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.
Full textDoctorat en Sciences
info:eu-repo/semantics/nonPublished
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.
Full textLivaniou, Krystallia. "Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes." Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.
Full textGreek folk songs are infused with a profound religiosity that appears both as a framework and as a means of action. The folk poet has a multidimensional relationship with the God of the Bible and of the Old Testament and makes saints and angels active and recurrent personalities in his texts; they evolve in parallel with the heroes, and their destinies intertwine. Charos is a mythical figure that plays a fundamental role throughout the songs. A mythologically and symbolically sophisticated personality, Charos is the pillar of the lament songs. His ambiguous relationship with the divine determines his relationship with man, and makes him a separate being. Both incarnation of evil and agent of death, his rich historical journey reveals his many faces, as well as his links with some heroic and ambiguous figures such as Digenis or Tsamados. Nature and the animals hold a significant role, characterised by a profound sacredness, and they accompany man in all aspects of his personal and social life. Their ability to transform and their role as announcers in the ballads, place the animals on the front of the stage and grant them a major role in the unfolding of the action. The poet attaches particular importance to the social aspect of the sacred by exploring the notion of divine betrayal but also that of obedience of man to his god. Monastic life and the clergy, as well as religious diversity, become objects of social criticism, and a source of humour. Folk songs preserve an important number of myths by adapting them, that have a literary presence in the Hellenic territory: the myths of Tantalus, Calypso and Adonis belong to them. The ancient heritage of the public expression of grief, of the redemption of the dead and of the hero's tomb, forms the basis of folk philosophy and makes death a true crossroads of cultures
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/.
Full textJAVANSHIR, 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.
Full textFamin, 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.
Full textAt a time when a slackening in the theoretical literary production could be observed in France, Edouard Glissant’s Poetic of Relation can be seen as an innovative proposal that renews the conception of literature. It is the result of a thinking which implies a fundamental epistemological standpoint, since it is at the origin of a new type of discourse in the domain of literary theory. We shall call it the literary "theoretico-poetical" discourse, as it mirrors the importance taken by poetry in the author's work as a privileged means of reflexion on the literary. Though Glissant wants to avoid any system of thought, his theoretico-poetical discourse is organised to describe and explain literary phenomenon. This thesis brings up to date the interpretations and use of Glissantian concepts commonly accepted today and apply them to a corpus of authors from the Americas. The study of "Écue-Yamba-O" by Alejo Carpentier, the comparative analysis of "Hijo de hombre" by Augusto Roa Bastos and "Texaco" by Patrick Chamoiseau as well as a reading of "Sartorius. Le roman des Batoutos" by Edouard Glissant identifies more closely the processes confirming the consistency and the productivity of the tools that the Poetic of Relation really brings to literary studies
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/.
Full textBooks on the topic "Digenism"
James, Kelly, and Lentarē Tina, eds. Pinakas symphrazomenōn tou Digenē Akritē, syntaxē E =: Concordance to Digenes Akrites, version E. Ērakleio: Panepistēmiakes Ekdoseis Krētēs, 1995.
Find full textPaolo, Odorico, ed. Digenis Akritas: Poema anonimo bizantino. Firenze: Giunti, 1995.
Find full textLeōnidou, Leōnidas Ph. Geōrgios Grivas Digenēs: Viographia. 2nd ed. Leukōsia: Ekdoseis K. Epiphaniou, 2009.
Find full textAnna, Spitzbarth, ed. Digenes Akritas: Das byzantinische Epos. Baden: H.J. Schweizer, 1988.
Find full textFenik, Bernard. Digenis: Epic and popular style in the Escorial version. Herakleion-Rethymnon: Crete University Press, 1991.
Find full textSikelianos, Angelos. Vita lirica: Poesie scelte e scene della tragedia Digenis. Palermo: Istituto siciliano di studi bizantini e neoellenici, 1987.
Find full textMirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.
Find full textMirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.
Find full textAlexiou, Stylianos. Vasileios Digenēs Akritēs. Athēna: Hermēs, 1990.
Find full textKalokyrē, Helenē. Vasileios Digenēs Akritas. 2nd ed. [Greece]: Kedros, 1993.
Find full textBook chapters on the topic "Digenism"
Trapp, Erich. "Digenēs Akritēs." In Kindlers Literatur Lexikon (KLL), 1–2. Stuttgart: J.B. Metzler, 2020. http://dx.doi.org/10.1007/978-3-476-05728-0_7808-1.
Full textCastroviejo, Ricardo. "Digenite (dg/neodigenite)." In A Practical Guide to Ore Microscopy—Volume 1, 259–63. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-12654-3_43.
Full textGoldwyn, Adam J. "Zoomorphic and Anthomorphic Metaphors in the “Proto-Romance” Digenis Akritis." In Byzantine Ecocriticism, 39–84. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-69203-6_2.
Full textChen, 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, 171–75. Basel: KARGER, 2000. http://dx.doi.org/10.1159/000059089.
Full text"Digenis Akritis: Description of Digenis’ Palace." In Sources for Byzantine Art History, 598–606. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.055.
Full text"digenite." In Dictionary Geotechnical Engineering/Wörterbuch GeoTechnik, 376. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-41714-6_41961.
Full text"Digenis Akritis: Description of the Υoung Digenis." In Sources for Byzantine Art History, 1043–46. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.095.
Full text"digenite, n." In Oxford English Dictionary. 3rd ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/9011881545.
Full text"Digenic Diseases." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 507–8. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4460.
Full text"Digenes Akrites." In Christian-Muslim Relations. A Bibliographical History. Volume 3 (1050-1200), 434–39. BRILL, 2011. http://dx.doi.org/10.1163/ej.9789004195158.i-804.261.
Full textConference papers on the topic "Digenism"
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.
Full textBirch, 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. Washington, D.C.: Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.
Full textReports on the topic "Digenism"
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, January 1993. http://dx.doi.org/10.32747/1993.7568764.bard.
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