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El papel de la lengua inglesa en la neología científica en español
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| 82 |
El tratamiento integrado de lenguas en la gramática : una aproximación a la terminología básica en los libros de texto de secundaria
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| 83 |
Mexico’s Tradition and Culture Entering the Digital Age: The Mexican Cultural Heritage Repository Project
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| 84 |
How to build a corpus for a tool-based approach to determinologisation in the field of particle physics
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In: ISSN: 2243-4712 ; Research in Corpus Linguistics, Vol. 7 (2019) pp. 1-17 (2019)
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| 85 |
Anàlisi de l’especificitat morfològica i semàntica de la neologia andorrana ; Analysis of the morphological and semantic specifitity of the Andorran neology
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In: Caplletra. Revista Internacional de Filologia.; Caplletra 66 (primavera 2019); 85-112 ; Caplletra. Revista Internacional de Filologia; Caplletra 66 (primavera 2019); 85-112 ; 2386-7159 ; 0214-8188 (2019)
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| 86 |
Estudio del uso de expresiones idiomáticas en una interpretación en el contexto sanitario ; A study of the use of idiomatic expressions in a healthcare interpretation
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| 87 |
Análisis del lenguaje jurídico en los medios de comunicación escritos españoles y estadounidenses ; Analysis of legal language in Spanish and American print mass media
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| 88 |
Taxonomía de las abreviaciones y de la siglación: revisión crítica y propuestas terminológicas
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| 89 |
Los folletos de salud pública: un análisis terminológico y fraseológico alemán-español
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| 90 |
L’anàlisi del canvi lèxic en el discurs especialitzat ; The analysis of lexical change in specialized discourse
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In: Caplletra. Revista Internacional de Filologia.; Caplletra 66 (primavera 2019); 163-182 ; Caplletra. Revista Internacional de Filologia; Caplletra 66 (primavera 2019); 163-182 ; 2386-7159 ; 0214-8188 (2019)
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| 91 |
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis; Brown, Melissa; Burke, Leslie; de la Hoya, Miguel; Domchek, Susan; Dörk, Thilo; Firth, Helen V; Monteiro, Alvaro N; Mensenkamp, Arjen; Parsons, Michael T; Radice, Paolo; Robson, Mark; Tischkowitz, Marc; Tudini, Emma; Turnbull, Clare; Vreeswijk, Maaike Pg; Walker, Logan C; Tavtigian, Sean; Eccles, Diana M. - : BMJ, 2019. : J Med Genet, 2019
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Abstract:
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease uses terms in common, but the meaning is not necessarily shared across all these contexts. In the setting of cancer genetic tests, the added dimension of using data from genetic sequencing of tumour DNA to direct treatment is an additional source of confusion to those who are not experienced in cancer genetics. The language used to describe variants identified in cancer susceptibility genetic testing typically still reflects an outdated paradigm of Mendelian inheritance with dichotomous outcomes. Cancer is a common disease with complex genetic architecture; an improved lexicon is required to better communicate among scientists, clinicians and patients, the risks and implications of genetic variants detected. This review arises from a recognition of, and discussion about, inconsistencies in vocabulary usage by members of the ENIGMA international multidisciplinary consortium focused on variant classification in breast-ovarian cancer susceptibility genes. It sets out the vocabulary commonly used in genetic variant interpretation and reporting, and suggests a framework for a common vocabulary that may facilitate understanding and clarity in clinical reporting of germline genetic tests for cancer susceptibility.
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Keyword:
Biomarkers; BRCA1; BRCA2; Computational Biology; Controlled; Gene Expression Profiling; Genes; Genetic Predisposition to Disease; Genetic Variation; Germ Cell and Embryonal; Germ-Line Mutation; High-Throughput Nucleotide Sequencing; Humans; International Classification of Diseases; Neoplasms; Terminology as Topic; Tumor; Vocabulary
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URL: https://doi.org/10.17863/CAM.37028
https://www.repository.cam.ac.uk/handle/1810/289788
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| 92 |
Ciencia, técnica y diccionario en la primera mitad del siglo XIX: incubando revoluciones ; Science, technique and dictionary in the first half of the 19th century: incubating revolutions
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Garriga Escribano, Cecilio. - : Universidad de Alicante. Departamento de Filología Española, Lingüística General y Teoría de la Literatura, 2019
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| 93 |
Terminology steps as a proposal for teaching and learning English in ESP classroom ; Etapas da terminologia como uma proposta de ensino e aprendizagem nas aulas de inglês instrumental
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In: Domínios de Lingu@gem; v. 13 n. 3 (2019): Número atemático; 869-899 ; Domínios de Lingu@gem; Vol 13 No 3 (2019): Athematic issue; 869-899 ; 1980-5799 (2019)
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| 95 |
Методологічні принципи укладання галузевого термінологічного словника
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| 97 |
АНГЛОМОВНА СТОМАТОЛОГІЧНА ТЕРМІНОЛОГІЯ: ФУНКЦІОНАЛЬНИЙ АСПЕКТ ; АНГЛОЯЗЫЧНАЯ СТОМАТОЛОГИЧЕСКАЯ ТЕРМИНОЛОГИЯ: ФУНКЦИОНАЛЬНЫЙ АСПЕКТ ; ENGLISH DENTAL TERMINOLOGY: FUNCTIONAL ASPECT
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In: Writings in Romance-Germanic Philology; № 2(43) (2019); 261-266 ; Записки з романо-германської філології; № 2(43) (2019); 261-266 ; 2518-7627 ; 2307-4604 (2019)
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| 98 |
ACHIEVEMENT OF CORRESPONDENCE BETWEEN THE TERMS OF LOGIC AND NORMS OF MODERN UKRAINIAN LANGUAGE ; УВІДПОВІДНЕННЯ ТЕРМІНІВ ЛОГІКИ НОРМАМ СУЧАСНОЇ УКРАЇНСЬКОЇ МОВИ
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In: Філософські обрії; № 39 (2018); 131-143 ; Philosophical Horizons; № 39 (2018); 131-143 ; 2412-2335 ; 2075-1443 (2019)
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| 99 |
Terminología del balonmano: estudio léxico, lexicográfico y propuesta de lemario para un diccionario de especialidad dirigido al gran público
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In: TDX (Tesis Doctorals en Xarxa) (2019)
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| 100 |
THE LEXICO-SEMANTIC FIELD METHOD IN THE STUDY OF GENDER TERMINOLOGY
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In: Новітня лінгвістика; № 4 (2019): ; 77-82 ; Advanced Linguistics; № 4 (2019): Advanced Linguistics; 77-82 ; 2663-6646 ; 2617-5339 (2019)
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