Literatura académica sobre el tema "Digenism"
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Artículos de revistas sobre el tema "Digenism"
Sáenz, Amets y Adolfo López de Munain. "Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n.º 2 (5 de noviembre de 2016): e7-e7. http://dx.doi.org/10.1093/brain/aww281.
Texto completoVissing, John y Morten Duno. "Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n.º 2 (15 de noviembre de 2016): e8-e8. http://dx.doi.org/10.1093/brain/aww283.
Texto completoBehin, A., P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre y B. Eymard. "G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy". Neuromuscular Disorders 17, n.º 9-10 (octubre de 2007): 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.
Texto completoCaetano, Carollne, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal y Corinne Collet. "Early onset idiopathic osteoporosis: digenism of wnt signaling pathway". Bone Reports 13 (octubre de 2020): 100354. http://dx.doi.org/10.1016/j.bonr.2020.100354.
Texto completoBeigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso y Nasrin Ghasemi. "Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease". Experimental Eye Research 207 (junio de 2021): 108533. http://dx.doi.org/10.1016/j.exer.2021.108533.
Texto completoMoraine, Claude, Frédérique Bonnet-Brilhault, Frédéric Laumonnier y Marie Gomot. "Could autism with mental retardation result from digenism and frequent de novo mutations?" World Journal of Biological Psychiatry 10, n.º 4-3 (enero de 2009): 1030–36. http://dx.doi.org/10.1080/15622970802627455.
Texto completoBertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou y Gisèle Bonne. "Clinical and genetic heterogeneity in laminopathies". Biochemical Society Transactions 39, n.º 6 (21 de noviembre de 2011): 1687–92. http://dx.doi.org/10.1042/bst20110670.
Texto completoChapon, 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, n.º 9-10 (octubre de 2008): 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.
Texto completoLecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon-Mantel, Philippe Chanson y 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, n.º 4 (2 de enero de 2016): 523–30. http://dx.doi.org/10.1530/eje-15-1044.
Texto completoHendrickx, B. "‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held". Literator 14, n.º 1 (3 de mayo de 1993): 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.
Texto completoTesis sobre el tema "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.
Texto completoHigh 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.
Texto completoGazzo, 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.
Texto completoDoctorat 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.
Texto completoLivaniou, Krystallia. "Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes". Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.
Texto completoGreek 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/.
Texto completoJAVANSHIR, 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.
Texto completoFamin, 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.
Texto completoAt 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/.
Texto completoLibros sobre el tema "Digenism"
James, Kelly y Lentarē Tina, eds. Pinakas symphrazomenōn tou Digenē Akritē, syntaxē E =: Concordance to Digenes Akrites, version E. Ērakleio: Panepistēmiakes Ekdoseis Krētēs, 1995.
Buscar texto completoPaolo, Odorico, ed. Digenis Akritas: Poema anonimo bizantino. Firenze: Giunti, 1995.
Buscar texto completoLeōnidou, Leōnidas Ph. Geōrgios Grivas Digenēs: Viographia. 2a ed. Leukōsia: Ekdoseis K. Epiphaniou, 2009.
Buscar texto completoAnna, Spitzbarth, ed. Digenes Akritas: Das byzantinische Epos. Baden: H.J. Schweizer, 1988.
Buscar texto completoFenik, Bernard. Digenis: Epic and popular style in the Escorial version. Herakleion-Rethymnon: Crete University Press, 1991.
Buscar texto completoSikelianos, Angelos. Vita lirica: Poesie scelte e scene della tragedia Digenis. Palermo: Istituto siciliano di studi bizantini e neoellenici, 1987.
Buscar texto completoMirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.
Buscar texto completoMirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.
Buscar texto completoAlexiou, Stylianos. Vasileios Digenēs Akritēs. Athēna: Hermēs, 1990.
Buscar texto completoKalokyrē, Helenē. Vasileios Digenēs Akritas. 2a ed. [Greece]: Kedros, 1993.
Buscar texto completoCapítulos de libros sobre el tema "Digenism"
Trapp, Erich. "Digenēs Akritēs". En Kindlers Literatur Lexikon (KLL), 1–2. Stuttgart: J.B. Metzler, 2020. http://dx.doi.org/10.1007/978-3-476-05728-0_7808-1.
Texto completoCastroviejo, Ricardo. "Digenite (dg/neodigenite)". En 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.
Texto completoGoldwyn, Adam J. "Zoomorphic and Anthomorphic Metaphors in the “Proto-Romance” Digenis Akritis". En Byzantine Ecocriticism, 39–84. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-69203-6_2.
Texto completoChen, A. H., K. Fukushima, W. T. McGuirt y R. J. H. Smith. "DFNB15: Autosomal Recessive Non-Syndromic Hearing Loss Gene - Chromosome 3q, 19p or Digenic Recessive Inheritance?" En Advances in Oto-Rhino-Laryngology, 171–75. Basel: KARGER, 2000. http://dx.doi.org/10.1159/000059089.
Texto completo"Digenis Akritis: Description of Digenis’ Palace". En Sources for Byzantine Art History, 598–606. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.055.
Texto completo"digenite". En Dictionary Geotechnical Engineering/Wörterbuch GeoTechnik, 376. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-41714-6_41961.
Texto completo"Digenis Akritis: Description of the Υoung Digenis". En Sources for Byzantine Art History, 1043–46. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.095.
Texto completo"digenite, n." En Oxford English Dictionary. 3a ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/9011881545.
Texto completo"Digenic Diseases". En 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.
Texto completo"Digenes Akrites". En 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.
Texto completoActas de conferencias sobre el tema "Digenism"
Brodbeck, Maurice, Sean Harrison McClenaghan, Balz Samuel Kamber y Patrick Redmond. "Redistribution of Rare Metal(loids) during Digenite Exsolution in Porphyry Copper Ores". En Goldschmidt2020. Geochemical Society, 2020. http://dx.doi.org/10.46427/gold2020.264.
Texto completoBirch, David G., Gabriel H. Travis, Kirsten G. Locke y Donald C. Hood. "Rod Ergs in Mice and Humans with Putative Null Mutations in the RDS Gene". En Vision Science and its Applications. Washington, D.C.: Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.
Texto completoInformes sobre el tema "Digenism"
Juvik, John A., Avri Bar Zur y Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, enero de 1993. http://dx.doi.org/10.32747/1993.7568764.bard.
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