Littérature scientifique sur le sujet « Digenism »
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Articles de revues sur le sujet "Digenism"
Sáenz, Amets, et Adolfo López de Munain. « Dominant LGMD2A : alternative diagnosis or hidden digenism ? » Brain 140, no 2 (5 novembre 2016) : e7-e7. http://dx.doi.org/10.1093/brain/aww281.
Texte intégralVissing, John, et Morten Duno. « Reply : Dominant LGMD2A : alternative diagnosis or hidden digenism ? » Brain 140, no 2 (15 novembre 2016) : e8-e8. http://dx.doi.org/10.1093/brain/aww283.
Texte intégralBehin, A., P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre et B. Eymard. « G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy ». Neuromuscular Disorders 17, no 9-10 (octobre 2007) : 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.
Texte intégralCaetano, Carollne, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal et Corinne Collet. « Early onset idiopathic osteoporosis : digenism of wnt signaling pathway ». Bone Reports 13 (octobre 2020) : 100354. http://dx.doi.org/10.1016/j.bonr.2020.100354.
Texte intégralBeigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso et Nasrin Ghasemi. « Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease ». Experimental Eye Research 207 (juin 2021) : 108533. http://dx.doi.org/10.1016/j.exer.2021.108533.
Texte intégralMoraine, Claude, Frédérique Bonnet-Brilhault, Frédéric Laumonnier et Marie Gomot. « Could autism with mental retardation result from digenism and frequent de novo mutations ? » World Journal of Biological Psychiatry 10, no 4-3 (janvier 2009) : 1030–36. http://dx.doi.org/10.1080/15622970802627455.
Texte intégralBertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou et Gisèle Bonne. « Clinical and genetic heterogeneity in laminopathies ». Biochemical Society Transactions 39, no 6 (21 novembre 2011) : 1687–92. http://dx.doi.org/10.1042/bst20110670.
Texte intégralChapon, 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 (octobre 2008) : 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.
Texte intégralLecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon-Mantel, Philippe Chanson et 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 (2 janvier 2016) : 523–30. http://dx.doi.org/10.1530/eje-15-1044.
Texte intégralHendrickx, B. « ‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held ». Literator 14, no 1 (3 mai 1993) : 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.
Texte intégralThèses sur le sujet "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.
Texte intégralHigh 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.
Texte intégralMade available in DSpace on 2012-10-24T01:10:34Z (GMT). No. of bitstreams: 1 258711.pdf: 10030420 bytes, checksum: 61c63f046d358c171ccb562a16c5cb40 (MD5)
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.
Texte intégralGazzo, 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.
Texte intégralDoctorat 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.
Texte intégralLivaniou, Krystallia. « Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes ». Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.
Texte intégralGreek 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/.
Texte intégralJAVANSHIR, 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.
Texte intégralFamin, 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.
Texte intégralAt 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/.
Texte intégralLivres sur le sujet "Digenism"
James, Kelly, et Lentarē Tina, dir. Pinakas symphrazomenōn tou Digenē Akritē, syntaxē E = : Concordance to Digenes Akrites, version E. Ērakleio : Panepistēmiakes Ekdoseis Krētēs, 1995.
Trouver le texte intégralPaolo, Odorico, dir. Digenis Akritas : Poema anonimo bizantino. Firenze : Giunti, 1995.
Trouver le texte intégralLeōnidou, Leōnidas Ph. Geōrgios Grivas Digenēs : Viographia. 2e éd. Leukōsia : Ekdoseis K. Epiphaniou, 2009.
Trouver le texte intégralAnna, Spitzbarth, dir. Digenes Akritas : Das byzantinische Epos. Baden : H.J. Schweizer, 1988.
Trouver le texte intégralFenik, Bernard. Digenis : Epic and popular style in the Escorial version. Herakleion-Rethymnon : Crete University Press, 1991.
Trouver le texte intégralSikelianos, Angelos. Vita lirica : Poesie scelte e scene della tragedia Digenis. Palermo : Istituto siciliano di studi bizantini e neoellenici, 1987.
Trouver le texte intégralMirabile, P. Digenis Akritas : L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France] : Voies itinérantes, 2008.
Trouver le texte intégralMirabile, P. Digenis Akritas : L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France] : Voies itinérantes, 2008.
Trouver le texte intégralAlexiou, Stylianos. Vasileios Digenēs Akritēs. Athēna : Hermēs, 1990.
Trouver le texte intégralKalokyrē, Helenē. Vasileios Digenēs Akritas. 2e éd. [Greece] : Kedros, 1993.
Trouver le texte intégralChapitres de livres sur le sujet "Digenism"
Trapp, Erich. « Digenēs Akritēs ». Dans Kindlers Literatur Lexikon (KLL), 1–2. Stuttgart : J.B. Metzler, 2020. http://dx.doi.org/10.1007/978-3-476-05728-0_7808-1.
Texte intégralCastroviejo, Ricardo. « Digenite (dg/neodigenite) ». Dans 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.
Texte intégralGoldwyn, Adam J. « Zoomorphic and Anthomorphic Metaphors in the “Proto-Romance” Digenis Akritis ». Dans Byzantine Ecocriticism, 39–84. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-69203-6_2.
Texte intégralChen, A. H., K. Fukushima, W. T. McGuirt et R. J. H. Smith. « DFNB15 : Autosomal Recessive Non-Syndromic Hearing Loss Gene - Chromosome 3q, 19p or Digenic Recessive Inheritance ? » Dans Advances in Oto-Rhino-Laryngology, 171–75. Basel : KARGER, 2000. http://dx.doi.org/10.1159/000059089.
Texte intégral« Digenis Akritis : Description of Digenis’ Palace ». Dans Sources for Byzantine Art History, 598–606. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.055.
Texte intégral« digenite ». Dans Dictionary Geotechnical Engineering/Wörterbuch GeoTechnik, 376. Berlin, Heidelberg : Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-41714-6_41961.
Texte intégral« Digenis Akritis : Description of the Υoung Digenis ». Dans Sources for Byzantine Art History, 1043–46. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.095.
Texte intégral« digenite, n. » Dans Oxford English Dictionary. 3e éd. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/9011881545.
Texte intégral« Digenic Diseases ». Dans 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.
Texte intégral« Digenes Akrites ». Dans 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.
Texte intégralActes de conférences sur le sujet "Digenism"
Brodbeck, Maurice, Sean Harrison McClenaghan, Balz Samuel Kamber et Patrick Redmond. « Redistribution of Rare Metal(loids) during Digenite Exsolution in Porphyry Copper Ores ». Dans Goldschmidt2020. Geochemical Society, 2020. http://dx.doi.org/10.46427/gold2020.264.
Texte intégralBirch, David G., Gabriel H. Travis, Kirsten G. Locke et Donald C. Hood. « Rod Ergs in Mice and Humans with Putative Null Mutations in the RDS Gene ». Dans Vision Science and its Applications. Washington, D.C. : Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.
Texte intégralRapports d'organisations sur le sujet "Digenism"
Juvik, John A., Avri Bar Zur et Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, janvier 1993. http://dx.doi.org/10.32747/1993.7568764.bard.
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