Literatura académica sobre el tema "Digénisme"
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Artículos de revistas sobre el tema "Digénisme"
Le Heup, B. "Digénisme : le retour". Archives de Pédiatrie 4, n.º 9 (septiembre de 1997): 925–26. http://dx.doi.org/10.1016/s0929-693x(97)88229-2.
Texto completoEtienne, M., M. Hosen, G. Leftheriotis, J. M. Ebran, E. De Maistre, O. Vanakker y L. Martin. "Pseudoxanthome élastique (PXE) associé à un digénisme ABCC6/GCCX". Annales de Dermatologie et de Vénéréologie 141, n.º 12 (diciembre de 2014): S368. http://dx.doi.org/10.1016/j.annder.2014.09.321.
Texto completoDreyfus, JC. "Une rétinite pigmentaire 'digénique" en deux loci non liés". médecine/sciences 10, n.º 8-9 (1994): 908. http://dx.doi.org/10.4267/10608/2733.
Texto completoBourcier, Marine y Elisabeth Baechler. "Une forme digénique de diabète MODY chez une adolescente". Diabetes & Metabolism 43, n.º 2 (marzo de 2017): A77. http://dx.doi.org/10.1016/s1262-3636(17)30323-3.
Texto completoJouanno, Corinne. "Sainte ou furie ? Quelques figures de la mère à Byzance". Kentron 10, n.º 1 (1994): 111–25. http://dx.doi.org/10.3406/kent.1994.1513.
Texto completoMINVIELLE, F. "Les bases de la génétique quantitative : Les modèles à un et deux locus". INRAE Productions Animales 5, HS (29 de diciembre de 1992): 61–67. http://dx.doi.org/10.20870/productions-animales.1992.5.hs.4263.
Texto completoDebibakas, Audrey. "L’espace narratif comme lieu d’exaltation du theme de la folie dans La case du commandeur d’édouard Glissant". Letras Escreve 9, n.º 2 (2 de marzo de 2020): 69. http://dx.doi.org/10.18468/letras.2019v9n2.p69-78.
Texto completoMajd, Nina Soleymani. "De quelques éléments de la symbolique du dragon dans l’épopée byzantine et persane". IRIS, n.º 41 (26 de noviembre de 2021). http://dx.doi.org/10.35562/iris.2193.
Texto completoTesis sobre el tema "Digénisme"
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
Soleymani, Majd Nina. "Lionnes et colombes : les personnages féminins dans le Cycle de Guillaume d’Orange, la Digénide, et le Châhnâmeh de Ferdowsi". Thesis, Université Grenoble Alpes (ComUE), 2019. http://www.theses.fr/2019GREAL024.
Texto completoThis work is meant to explore the literary effects of the massive presence of female characters in the medieval epic, despite the paradox it represents, given that these poems deal mainly with war and seem to be primarily concerned with masculinity. The research focuses on three major epics from France, Byzantium and Persia, composed between the 11th and the 13th century. The study of female characters from a comparative point of view emphasizes their impact on the narrative, contrasts their submissiveness with their independance from their male counterparts, and sheds light upon the misogynistic stereotypes as well as the positive appreciations among their literary representations. Since the epic genre has been recently redefined as the ideal locus for the confronting of antithetic social values through the use of narratological tools, rather than conceptual, we would like to show that this can also apply to gender norms. Because their agency becomes problematic as soon as it challenges that of men, women in epics bring on a constant inquiry of those norms. Be it indirect or straightforward, this latent tendency gives rise to a specifically feminine transgression that, when leading to heroism, allows to re-read those works as going against essentialist prejudices
Kerner, Gaspard. "Recherche de mutations pathogéniques par analyses d'exomes de larges échantillons de patients : application à la tuberculose". Thesis, Université de Paris (2019-....), 2020. http://www.theses.fr/2020UNIP7069.
Texto completoThe thesis aimed at finding new genetic etiologies of tuberculosis disease using whole exome sequencing data of tuberculosis patients as well as MSMD patients. Since the beginning of the XXth century researchers have tried to understand why infected individuals would (~10%) in some cases develop diseases while others (~90%) would remain asymptomatic. We herein describe the first genetic etiology of MSMD in the IFNG gene, the core gene controlling host’s immune systeme against mycobacterial infections. We also describe the first common monogenic etiology of tuberculosis in the TYK2 gene, bridging the gap between monogenic variants with strong effect and more common variants obtained with GWAS. Looking back at the history of TB, it would be estimated that about 10 million people died due to this one TYK2 mutation. We finally expanded the study of the genetics of tuberculosis by developing a new methodology to study digenic effects on disease susceptibility. It is in particular appropriate to the study of so far assumed monogenic diseases that are not fully explained by a monogenic lesion. Robustness and power of this approach to find interaction between independent genomic regions were shown in both extensive simulated data and real exome data (craniosynostosis)
Debibakas, Audrey. "Poétiques d’archipélité : désancrages géographiques et littéraires". Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCA105.
Texto completoThe body of texts examined in this study deals with disanchored, decentred, shifting literary works. Far from being separate and independent units, the novels, though singular, are constantly overlapping in terms of narrative themes. Therefore we can identify a fictional landscape that is both specific and common. The novels take pride of place from within a common history and focus on three islands, thereby creating a real scriptural geography. Three novels, three Caribbean islands and three authors are under consideration. The geographical archipelity and the literary one appear to be the result of a malleable geography and/or of a boundless creativity. The designated space and the works are in perpetual construction. In this study, both the geographical and literary archipelagos are conceptualized as a way to identify and bring together small portions of history and memories. The slave trade is a truly “unspeakable language” which does not provide any narrative. Against the backdrop of an absence of epic tales and myths, the texts that are considered for study have been highlighted. They are seeking to reproduce the fragmented and incomplete nature of life, thereby emphasizing the importance of nothingness, absence, the unspeakable and the ineffable. The initial “non-world” evolves into an emerging new digenic narrative space. Hence a geographical dematerialization within the narrative. The archipelago itself reproduces the unspeakable and invisible memories that are related to forgotten stories. Thus, the novels are not only describing geographical and historical nothingness, they are also transforming it into an asset for literature and poetry. What was once considered a fundamental flaw has become an asset for literary and creative thought
Libros sobre el tema "Digénisme"
Le Recit d`Igor dans la koine eurasiatique medievale. Hong Kong, China: Voies Itinerantes, 2011.
Buscar texto completoCapítulos de libros sobre el tema "Digénisme"
"Basile Digénis Akritas: Chant premier". En Digénis Akritas, le héros des frontières, 193–202. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00151.
Texto completo"Histoire du texte de Digénis Akritas". En Digénis Akritas, le héros des frontières, 7–30. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00147.
Texto completo"Le fonds historique de Digénis Akritas". En Digénis Akritas, le héros des frontières, 31–92. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00148.
Texto completo"L’identité “romaine” dans le roman Digénis Akritis". En Constructions of Greek Past, 157–83. BRILL, 2003. http://dx.doi.org/10.1163/9789004495463_013.
Texto completo"Annexe: Visite de Digénis au camp des apélates". En Digénis Akritas, le héros des frontières, 307–9. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00159.
Texto completo"Traditions légendaires". En Digénis Akritas, le héros des frontières, 93–128. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00149.
Texto completo"La rédaction G, un texte au statut incertain". En Digénis Akritas, le héros des frontières, 129–88. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00150.
Texto completo"Chant II: Sur la naissance de l'Akrite". En Digénis Akritas, le héros des frontières, 203–11. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00152.
Texto completo"Chant III: Retour de Syrie en compagnie de sa mère". En Digénis Akritas, le héros des frontières, 213–22. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00153.
Texto completo"Chant IV". En Digénis Akritas, le héros des frontières, 223–54. Turnhout: Brepols Publishers, 1998. http://dx.doi.org/10.1484/m.th-eb.4.00154.
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