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Good Scientific Practice in MEEG Research: Progress and Perspectives
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In: https://hal.archives-ouvertes.fr/hal-03494100 ; 2021 (2021)
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Predicting the end: Epistemic change in Romance
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In: ISSN: 1937-8912 ; Semantics and Pragmatics ; https://hal.archives-ouvertes.fr/hal-02151379 ; Semantics and Pragmatics, Linguistic Society of America, 2020, 13 (2020)
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More than smell. COVID-19 is associated with severe impairment of smell, taste, and chemesthesis
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In: ISSN: 0379-864X ; EISSN: 1464-3553 ; Chemical Senses ; https://hal.inrae.fr/hal-02911030 ; Chemical Senses, Oxford University Press (OUP), 2020, 45 (7), pp.609-622. ⟨10.1093/chemse/bjaa041⟩ ; https://academic.oup.com/chemse/article/doi/10.1093/chemse/bjaa041/5860460 (2020)
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Arabic as a Heritage Language: Parental views about Maintain and Enhancing their Children’s Arabic Language
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In: South East Coastal Conference on Languages & Literatures (SECCLL) (2019)
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| 5 |
High leverage teaching and tutoring practices to accelerate oral language proficiency of Arabic as a foreign language learners in the United States
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In: South East Coastal Conference on Languages & Literatures (SECCLL) (2019)
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Type-shifting: four categories
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In: https://hal.archives-ouvertes.fr/hal-01728738 ; 2018 (2018)
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Copredication in homotopy type theory
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In: https://hal.archives-ouvertes.fr/hal-01628150 ; 2017 (2017)
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How Evolution May Work Through Curiosity-Driven Developmental Process
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In: ISSN: 1756-8757 ; EISSN: 1756-8765 ; Topics in cognitive science ; https://hal.inria.fr/hal-01404334 ; Topics in cognitive science, Wiley, 2016, 8, ⟨10.1111/tops.12196⟩ ; https://www.ncbi.nlm.nih.gov/pubmed/26969919 (2016)
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| 9 |
The linguistic patterns and rhetorical structure of citation context: an approach using n-grams
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In: ISSN: 0138-9130 ; EISSN: 1588-2861 ; Scientometrics ; https://halshs.archives-ouvertes.fr/halshs-01742166 ; Scientometrics, Springer Verlag, 2016, 109 (3), pp.1417 - 1434. ⟨10.1007/s11192-016-2134-8⟩ (2016)
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| 10 |
International evidence on the impact of adopting English as an external reporting language
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In: ISSN: 0047-2506 ; EISSN: 1478-6990 ; Journal of International Business Studies ; https://hal-hec.archives-ouvertes.fr/hal-01147676 ; Journal of International Business Studies, Palgrave Macmillan, 2015, 46 (4), pp.180-205. ⟨10.1057/jibs.2014.33⟩ (2015)
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| 11 |
An Empirical Test of Type-Indeterminacy in the Prisoner's Dilemma
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In: Quantum Interaction ; https://halshs.archives-ouvertes.fr/halshs-01053522 ; Quantum Interaction, 2014, pp.213-224. ⟨10.1007/978-3-642-54943-4_19⟩ (2014)
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Overview of the SPMRL 2013 Shared Task: A Cross-Framework Evaluation of Parsing Morphologically Rich Languages
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In: Proceedings of the Fourth Workshop on Statistical Parsing of Morphologically-Rich Languages ; https://hal.archives-ouvertes.fr/hal-00877096 ; Proceedings of the Fourth Workshop on Statistical Parsing of Morphologically-Rich Languages, Oct 2013, Seattle, Washington, United States. pp.146--182 (2013)
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| 13 |
Bilateral Coordination and the Motor Basis of Female Preference for Sexual Signals in Canary Song
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In: ISSN: 0022-0949 ; EISSN: 1477-9145 ; Journal of Experimental Biology ; https://hal.parisnanterre.fr//hal-01478484 ; Journal of Experimental Biology, The Company of Biologists, 2012, 215, pp.2950-2959. ⟨10.1242/jeb.071944⟩ (2012)
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
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Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J.; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence; Wieczorek, Dagmar; Uyanik, Gökhan; Kutsche, Kerstin; Dobyns, William
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-00616882 ; Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.396. ⟨10.1136/jmg.2010.087528⟩ (2011)
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Abstract:
International audience ; Background: Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. We aimed to further characterize and delineate the phenotype of FOXG1-mutation positive patients. Method: We mapped the breakpoints of a 2;14 translocation by fluorescence in situ hybridization and analyzed three chromosome rearrangements in 14q12 by cytogenetic analysis and/or array CGH. We sequenced the FOXG1 gene in 210 patients, including 129 patients with unexplained developmental disorders and 81 MECP2-mutation negative individuals. Results: We report one known mutation, seen in 2 patients, and 9 novel mutations of FOXG1 including 2 deletions, 2 chromosome rearrangements disrupting or displacing putative cis-regulatory elements from FOXG1, and 7 sequence changes. Analysis of our 11 patients, and further 15 patients reported in the literature, demonstrates a complex constellation of features including mild postnatal growth deficiency, severe postnatal microcephaly, severe mental retardation with absent language development, deficient social reciprocity resembling autism, combined stereotypies and frank dyskinesias, epilepsy, poor sleep patterns, irritability in infancy, unexplained episodes of crying, recurrent aspiration, and gastroesophageal reflux. Brain imaging studies reveal simplified gyral pattern and reduced white matter volume in the frontal lobes, corpus callosum hypogenesis, and variable mild frontal pachgyria. Conclusions: We significantly expanded the number of FOXG1 mutations and identified two affecting possible cis-regulatory elements. While the phenotype of the patients overlaps both classic and congenital Rett syndrome, extensive clinical evaluation demonstrates a distinctive and clinically recognizable phenotype which we suggest to designate as the FOXG1 syndrome.
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Keyword:
Clinical genetics
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URL: https://doi.org/10.1136/jmg.2010.087528
https://hal.archives-ouvertes.fr/hal-00616882
https://hal.archives-ouvertes.fr/hal-00616882/document
https://hal.archives-ouvertes.fr/hal-00616882/file/PEER_stage2_10.1136%252Fjmg.2010.087528.pdf
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| 15 |
Folks in folksonomies: Social link prediction from shared metadata
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In: third ACM international conference on Web search and data mining ; https://hal.archives-ouvertes.fr/hal-00429886 ; third ACM international conference on Web search and data mining, Feb 2010, New York, United States. pp.271, ⟨10.1145/1718487.1718521⟩ (2010)
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| 16 |
A Review of Discourse Analysis in Literacy Research: Equitable Access
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| 17 |
A Proof-Theoretic Foundation of Abortive Continuations
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In: ISSN: 1388-3690 ; EISSN: 1573-0557 ; Higher-Order and Symbolic Computation ; https://hal.inria.fr/hal-00697242 ; Higher-Order and Symbolic Computation, Springer Verlag, 2007, 20 (4), ⟨10.1007/s10990-007-9007-z⟩ (2007)
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| 18 |
A grammar of Crow = Apsáalooke Aliláau ; Apsáalooke Aliláau
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Graczyk, Randolph, 1942-. - : Lincoln : University of Nebraska Press, 2007. : Bloomington : In cooperation with the American Indian Studies Research Institute, Indiana University, 2007
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| 20 |
Quelque chose . de remarquable in English-French acquisition: mandatory, informationally encapsulated computations in second language interpretation
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In: ISSN: 0267-6583 ; EISSN: 1477-0326 ; Second Language Research ; https://hal.archives-ouvertes.fr/hal-00572081 ; Second Language Research, SAGE Publications, 2005, 21 (4), pp.291-323. ⟨10.1191/0267658305sr249oa⟩ (2005)
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